ClinVar Miner

Submissions for variant NM_001375834.1(WIPF1):c.55A>C (p.Asn19His)

gnomAD frequency: 0.00005  dbSNP: rs769425496
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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 RCV001867647 SCV002128673 uncertain significance Wiskott-Aldrich syndrome 2 2021-08-31 criteria provided, single submitter clinical testing

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