ClinVar Miner

Submissions for variant NM_001375834.1(WIPF1):c.717C>T (p.Pro239=)

gnomAD frequency: 0.00013  dbSNP: rs573445151
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002174166 SCV002474929 likely benign Wiskott-Aldrich syndrome 2 2024-08-24 criteria provided, single submitter clinical testing

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