ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.623A>C (p.Asn208Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003457415 SCV004185213 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing WFS1: PM2
Fulgent Genetics, Fulgent Genetics RCV005036808 SCV005664689 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2024-04-01 criteria provided, single submitter clinical testing

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