Reclassification Report
Carrier testing in the NSD1 (OMIM®: 606681) gene. Reclassified from uncertain clinical significance (class 3) to likely pathogenic (class 2).
New disease-causing variants are identified every year. Consequently, classifying variants is an on ongoing process. At CENTOGENE, we have a dedicated team of experts who monitor medical literature and update our Bio/Databank accordingly. We use internationally recognized American College of Medical Genetics and Genomics (ACMG) guidelines to evaluate new evidence. We combine it with our patient data to make informed decisions when classifying newly identified genetic variants.
Once a variant is classified, every new observation, whether via internal or external research, is monitored and used to also re-evaluate past classification decisions systematically. New evidence can sometimes suggest a change in diagnosis or treatment. We communicate all re-classification decisions to our referring physicians, and any re-classification affecting a genetic diagnosis is shared as soon as possible.
Carrier testing in the NSD1 (OMIM®: 606681) gene. Reclassified from uncertain clinical significance (class 3) to likely pathogenic (class 2).
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