ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.444C>T (p.Cys148=)

gnomAD frequency: 0.00005  dbSNP: rs998539254
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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 RCV002180938 SCV002473853 likely benign not provided 2024-11-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494512 SCV002802856 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-03-10 criteria provided, single submitter clinical testing
GeneDx RCV002180938 SCV005870327 uncertain significance not provided 2024-08-19 criteria provided, single submitter clinical testing In silico analysis indicates that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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