ClinVar Miner

Submissions for variant NM_001098671.2(RASGRP2):c.887G>A (p.Cys296Tyr)

dbSNP: rs2135765010
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Total submissions: 1
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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 RCV002223120 SCV002500910 likely pathogenic Platelet-type bleeding disorder 18 criteria provided, single submitter clinical testing

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