ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1494C>T (p.Val498=)

gnomAD frequency: 0.00009  dbSNP: rs778206175
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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 RCV002127216 SCV002401992 likely benign not provided 2024-10-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500005 SCV002802417 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-02-03 criteria provided, single submitter clinical testing

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