ClinVar Miner

Submissions for variant NM_001098671.2(RASGRP2):c.1480dup (p.Arg494fs)

dbSNP: rs1555122100
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Total submissions: 1
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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 RCV000477816 SCV000536889 likely pathogenic Platelet-type bleeding disorder 18 2016-08-06 no assertion criteria provided research

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