ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2166G>A (p.Met722Ile)

dbSNP: rs758534824
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776475 SCV002013073 uncertain significance not provided 2024-12-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD)
Fulgent Genetics, Fulgent Genetics RCV005038315 SCV005667540 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2024-01-01 criteria provided, single submitter clinical testing

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