ClinVar Miner

Submissions for variant NM_030761.5(WNT4):c.96G>A (p.Ser32=)

gnomAD frequency: 0.00039  dbSNP: rs144407094
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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 RCV000945996 SCV001092075 likely benign not provided 2024-12-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489285 SCV002795682 likely benign Mullerian aplasia and hyperandrogenism; SERKAL syndrome 2022-01-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000945996 SCV005260691 likely benign not provided criteria provided, single submitter not provided

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