ClinVar Miner

Submissions for variant NM_001375834.1(WIPF1):c.231C>T (p.Gly77=)

gnomAD frequency: 0.00001  dbSNP: rs772302114
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001058795 SCV001223390 likely benign Wiskott-Aldrich syndrome 2 2023-03-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702876 SCV001930249 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702876 SCV001966472 likely benign not provided no assertion criteria provided clinical testing

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