ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2185G>A (p.Asp729Asn)

gnomAD frequency: 0.00004  dbSNP: rs575778537
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192394 SCV000249462 uncertain significance not specified 2015-04-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001504622 SCV001709507 likely benign not provided 2024-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005042416 SCV005667542 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2024-06-18 criteria provided, single submitter clinical testing

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