ClinVar Miner

Submissions for variant NM_001375834.1(WIPF1):c.49C>T (p.Leu17=)

gnomAD frequency: 0.00004  dbSNP: rs769395136
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001506862 SCV001711800 likely benign Wiskott-Aldrich syndrome 2 2020-07-19 criteria provided, single submitter clinical testing

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