ClinVar Miner

Submissions for variant NM_001375834.1(WIPF1):c.419C>T (p.Pro140Leu)

gnomAD frequency: 0.00001  dbSNP: rs765784451
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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 RCV001323011 SCV001513908 uncertain significance Wiskott-Aldrich syndrome 2 2021-09-01 criteria provided, single submitter clinical testing

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