ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2118C>T (p.Tyr706=)

gnomAD frequency: 0.00004  dbSNP: rs375408391
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002120291 SCV002400936 likely benign not provided 2025-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500009 SCV002805010 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-07-26 criteria provided, single submitter clinical testing

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