ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.882C>T (p.His294=)

gnomAD frequency: 0.00003  dbSNP: rs571928866
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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 RCV001476016 SCV001680219 likely benign not provided 2024-07-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495708 SCV002802797 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-10-21 criteria provided, single submitter clinical testing

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