ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.393C>T (p.Val131=)

gnomAD frequency: 0.00008  dbSNP: rs758199900
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001575356 SCV001802329 likely benign not provided 2020-07-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001575356 SCV002325173 likely benign not provided 2024-11-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476881 SCV002803387 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-10-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001575356 SCV005436098 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing WFS1: BP4, BP7

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