ClinVar Miner

Submissions for variant NM_001098671.2(RASGRP2):c.1717C>T (p.Arg573Cys)

gnomAD frequency: 0.00001  dbSNP: rs770760594
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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 RCV002245326 SCV002515506 uncertain significance Platelet-type bleeding disorder 18 no assertion criteria provided clinical testing

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