ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1377G>A (p.Leu459=)

gnomAD frequency: 0.00019  dbSNP: rs143672793
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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 RCV002203823 SCV002488494 likely benign not provided 2024-12-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496131 SCV002795676 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-01-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002203823 SCV004562694 likely benign not provided 2023-09-30 criteria provided, single submitter clinical testing

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