ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2391C>T (p.Asp797=)

gnomAD frequency: 0.00008  dbSNP: rs548415089
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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 RCV002117977 SCV002403362 benign not provided 2025-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480953 SCV002796439 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-01-18 criteria provided, single submitter clinical testing

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