ClinVar Miner

Submissions for variant NM_001098671.2(RASGRP2):c.542T>C (p.Phe181Ser)

dbSNP: rs1060499609
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477885 SCV000536890 uncertain significance Platelet-type bleeding disorder 18 2016-02-09 no assertion criteria provided research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000477885 SCV001161839 likely pathogenic Platelet-type bleeding disorder 18 no assertion criteria provided research

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