ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1026C>T (p.Ala342=)

gnomAD frequency: 0.00005  dbSNP: rs777072078
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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 RCV002210081 SCV002364071 likely benign not provided 2024-03-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507918 SCV002809644 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-04-23 criteria provided, single submitter clinical testing

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