GATA2 GERMLINE REGISTRY

We performed American College of Medical Genetics and Genomics/Association for Molecular Pathology(ACMG/AMP) classification of germline GATA2 variants creating a germline GATA2 variant registry. Analysing genetic and phenotypic data from 359 probands/families and 179 unique germline GATA2 variants, this represents the largest collection of curated and clinically classified GATA2 germline variants to date, providing a unique clinical resource for researchers, clinical genomics laboratories and clinical haematologists.

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Published in Human Mutation https://doi.org/10.1002/humu.24271