ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1014C>A (p.Ile338=)

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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 RCV003727246 SCV004536159 likely benign not provided 2024-02-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005030245 SCV005660207 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2024-01-20 criteria provided, single submitter clinical testing

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