ClinVar Miner

Submissions for variant NM_005417.4(SRC):c.1579G>A (p.Glu527Lys) (rs879255268)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000211002 SCV000267654 pathogenic Thrombocytopenia 6 2021-01-28 no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003535 SCV001161862 likely pathogenic Myelofibrosis; Osteoporosis; Thrombocytopenia no assertion criteria provided research

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