{"id":1451,"date":"2025-03-14T12:25:12","date_gmt":"2025-03-14T12:25:12","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/?page_id=1451"},"modified":"2026-06-30T09:20:31","modified_gmt":"2026-06-30T09:20:31","slug":"reclassificacao-de-variantes","status":"publish","type":"page","link":"https:\/\/www.centogene.com\/pt\/about-us\/variant-reclassification\/","title":{"rendered":"Reclassifica\u00e7\u00e3o de variantes"},"content":{"rendered":"<section class=\"bloque-banner-titulo-page  estilo-grey\" id=\"\">\r\n    \r\n    <div class=\"image-wrapper\">\r\n\r\n      <!-- include mp4 video on a loop -->\r\n              <img decoding=\"async\" class=\"\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/csm_211118-centogene-images-styleguide-header-03_a469d90c1c.webp\" alt=\"csm_211118-centogene-images-styleguide-header-03_a469d90c1c\" \/>\r\n          <\/div>\r\n    <div class=\"container content-wrapper\">\r\n      <div class=\"row justify-content-start align-items-center\">\r\n\r\n\r\n        <div class=\"col-12 col-lg-6 animation fadeTop align-self-center\">\r\n                  <h1>Reclassifica\u00e7\u00e3o de variantes<\/h1>\r\n          <h2 class=\"bl-texto\">Todos os resultados de diagn\u00f3stico dos nossos testes s\u00e3o inseridos automaticamente no nosso programa de reclassifica\u00e7\u00e3o de variantes. Este programa auxilia na identifica\u00e7\u00e3o de novas evid\u00eancias gen\u00e9ticas. Notificamos os m\u00e9dicos automaticamente e sem custos caso uma nova classifica\u00e7\u00e3o tenha impacto em um diagn\u00f3stico anterior.<\/h2>           \r\n          <a class=\"btn btn-primary mb-2\" href=\"#\">Leia mais<\/a>\r\n                            <\/div>\r\n\r\n      <\/div>\r\n    <\/div>\r\n\r\n<\/section>\r\n<div class=\"breadcrumbs\">\r\n    <div class=\"container\">\r\n      <div class=\"row\">\r\n        <div class=\"col-12\">\r\n          <ul id=\"breadcrumbs\" class=\"breadcrumbs\"><li><a href=\"https:\/\/www.centogene.com\/pt\/\">Home<\/a><\/li><\/ul>        <\/div>\r\n      <\/div>\r\n    <\/div>\r\n<\/div>\r\n\r\n\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    transparente-my\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<h2 class=\"wp-block-heading\">Compromisso vital\u00edcio com a seguran\u00e7a do paciente por meio de classifica\u00e7\u00f5es sistematicamente reavaliadas.<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Novas variantes causadoras de doen\u00e7as s\u00e3o identificadas todos os anos. Consequentemente, a classifica\u00e7\u00e3o dessas variantes \u00e9 um processo cont\u00ednuo. Na CENTOGENE, contamos com uma equipe dedicada de especialistas que monitoram a literatura m\u00e9dica e atualizam nosso Biobanco de Dados de acordo. Utilizamos as diretrizes internacionalmente reconhecidas do Col\u00e9gio Americano de Gen\u00e9tica M\u00e9dica e Gen\u00f4mica (ACMG) para avaliar novas evid\u00eancias. Combinamos essas informa\u00e7\u00f5es com os dados de nossos pacientes para tomar decis\u00f5es embasadas na classifica\u00e7\u00e3o de variantes gen\u00e9ticas rec\u00e9m-identificadas.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Uma vez classificada uma variante, toda nova observa\u00e7\u00e3o, seja por meio de pesquisa interna ou externa, \u00e9 monitorada e utilizada para reavaliar sistematicamente as decis\u00f5es de classifica\u00e7\u00e3o anteriores. Novas evid\u00eancias podem, por vezes, sugerir uma mudan\u00e7a no diagn\u00f3stico ou tratamento. Comunicamos todas as decis\u00f5es de reclassifica\u00e7\u00e3o aos nossos m\u00e9dicos solicitantes, e qualquer reclassifica\u00e7\u00e3o que afete um diagn\u00f3stico gen\u00e9tico \u00e9 compartilhada o mais breve poss\u00edvel. &nbsp;<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:33.33%\">\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocaja tableicons\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<h4 class=\"wp-block-heading\">Vantagens do nosso programa de reclassifica\u00e7\u00e3o de variantes<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Notifica\u00e7\u00e3o proativa de todos os pacientes afetados pela reclassifica\u00e7\u00e3o.<\/li>\n\n\n\n<li>Baseado em uma combina\u00e7\u00e3o \u00fanica de dados abrangentes de pacientes \u2013 gen\u00e9ticos, bioqu\u00edmicos e cl\u00ednicos.<\/li>\n\n\n\n<li>Dados de variantes derivados de uma coorte grande e diversificada de pacientes<\/li>\n\n\n\n<li>Processo rigoroso de curadoria e valida\u00e7\u00e3o de dados<\/li>\n<\/ul>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n<\/div>\n<\/div>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocolor\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<h3 class=\"wp-block-heading has-text-align-center\">Um diagn\u00f3stico confi\u00e1vel come\u00e7a com uma classifica\u00e7\u00e3o de variantes robusta e din\u00e2mica.<\/h3>\n\n\n\n<figure class=\"wp-block-image aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"1200\" height=\"535\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene_variant_classifcation_infographics_V2.webp\" alt=\"\" class=\"wp-image-1956\" srcset=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene_variant_classifcation_infographics_V2.webp 1200w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene_variant_classifcation_infographics_V2-1024x457.webp 1024w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene_variant_classifcation_infographics_V2-768x342.webp 768w\" sizes=\"auto, (max-width: 1200px) 100vw, 1200px\" \/><\/figure>\n\n<\/div>\r\n          \r\n                            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    transparente-my\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                        <div class=\"row\">\r\n                <div class=\"col-12  col-md-10 mx-auto\">                     \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<h3 class=\"wp-block-heading has-text-align-center\">Valor agregado dos dados bioqu\u00edmicos no processo de classifica\u00e7\u00e3o<\/h3>\n\n\n\n<h4 class=\"wp-block-heading has-text-align-center\">Um estudo interno que selecionou e classificou variantes em 7 genes metab\u00f3licos (GAA, GBA, GLA, IDS, NPC1, NPC2 e SMPD1) mostrou que elas foram classificadas incorretamente no ClinVar e no HGMD\u00ae. Nosso banco de dados propriet\u00e1rio, o Bio\/Databank, as classificou corretamente.<\/h4>\n\n\n\n<figure class=\"wp-block-image aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"1920\" height=\"580\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/csm_centogene_ordering_variant_classification_variant_Icon_V3__Workflow_e86afb9938.png\" alt=\"\" class=\"wp-image-1959\"\/><\/figure>\n\n<\/div>\r\n          \r\n                                <\/div>\r\n            <\/div>            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor    fondocolor\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                        <div class=\"row\">\r\n                <div class=\"col-12  col-md-10\">                     \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\n<h3 class=\"wp-block-heading has-text-align-center\">Todos os pacientes afetados pela reclassifica\u00e7\u00e3o s\u00e3o notificados.<\/h3>\n\n\n\n<figure class=\"wp-block-image aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"2501\" height=\"2248\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene_variant_classification_infographics_V2_20180830_ell_Patient_Physician.png\" alt=\"\" class=\"wp-image-1958\" srcset=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene_variant_classification_infographics_V2_20180830_ell_Patient_Physician.png 2501w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene_variant_classification_infographics_V2_20180830_ell_Patient_Physician-890x800.png 890w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene_variant_classification_infographics_V2_20180830_ell_Patient_Physician-1139x1024.png 1139w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene_variant_classification_infographics_V2_20180830_ell_Patient_Physician-768x690.png 768w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene_variant_classification_infographics_V2_20180830_ell_Patient_Physician-1536x1381.png 1536w, https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene_variant_classification_infographics_V2_20180830_ell_Patient_Physician-2048x1841.png 2048w\" sizes=\"auto, (max-width: 2501px) 100vw, 2501px\" \/><\/figure>\n\n<\/div>\r\n          \r\n                                <\/div>\r\n            <\/div>            \r\n        <\/div>\r\n    <\/div>\r\n<\/section>\r\n\n\n\r\n    \r\n\r\n<section class=\"bloque-contenedor\"   id=\"\">\r\n    <div class=\"container\">\r\n        <div class=\"\"> \r\n                                \r\n\r\n                <div class=\"acf-innerblocks-container\">\n\r\n\r\n\r\n<section class=\"bloque-tabs-resources\" id=\"tabs-group-194\">\r\n<h2 class=\"text-center mt-0\"> Informa\u00e7\u00f5es e recursos adicionais<\/h2>\r\n    <div class=\"tab-content\" id=\"tab-content\">\r\n        <div class=\"acf-innerblocks-container\">\r\n            \r\n\r\n                        <div class=\"tab-body  bloque-noticias bloque-tabs-resources-downloads\" id=\"tab-body-downloads-194\" >\r\n            <div  class=\"row\">                        <article class=\"col-xl-4 col-md-6 col-12\">\r\n                        <div class=\"row bl-texto\">\r\n                            <div class=\"bl-datos col-md-3 col-3\"> \r\n                                                                <img decoding=\"async\" src=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene_sample_report__reclassification_report_from_VUS_to_LPv3_-pdf-283x400.jpg\" alt=\"Relat\u00f3rio de Reclassifica\u00e7\u00e3o\" class=\"file-thumbnail\">\r\n                                                            <\/div>\r\n                            <div class=\"col-md-9 col-9\">       \r\n\r\n                                <h4 class=\"bl-titulo\">Relat\u00f3rio de Reclassifica\u00e7\u00e3o<\/h4>\r\n                                \r\n                                <div class=\"bl-description\">\r\n                                <p>Teste de portador no gene NSD1 (OMIM\u00ae: 606681). Reclassificado de significado cl\u00ednico incerto (classe 3) para provavelmente patog\u00eanico (classe 2).<\/p>                                <\/div>\r\n                                \r\n                                <div class=\"bl-links\">\r\n                                                                    <a href=\"https:\/\/www.centogene.com\/wp-content\/uploads\/2025\/03\/centogene_sample_report__reclassification_report_from_VUS_to_LPv3_.pdf\" target=\"_blank\" class=\"btn btn-2\">Download<\/a>\r\n                                \r\n                                <\/div>\r\n                            <\/div>\r\n\r\n                        <\/div>\r\n                    <\/article>\r\n                                                        \r\n                \r\n                <\/div>                          \r\n            <\/div>\r\n            \r\n\r\n\r\n\r\n            \r\n\r\n\r\n                    <\/div>\r\n    <\/div>\r\n<\/section>\r\n\r\n\r\n<script>\r\n  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