ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1846dup (p.Ala616fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005039201 SCV005665348 likely pathogenic Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2024-04-17 criteria provided, single submitter clinical testing

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