ClinVar Miner

Submissions for variant NM_198291.3(SRC):c.1579G>A (p.Glu527Lys)

dbSNP: rs879255268
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV000211002 SCV002569914 likely pathogenic Thrombocytopenia 6 criteria provided, single submitter clinical testing
OMIM RCV000211002 SCV000267654 pathogenic Thrombocytopenia 6 2021-10-12 no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003535 SCV001161862 likely pathogenic Primary myelofibrosis; Osteoporosis; Thrombocytopenia no assertion criteria provided research

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