ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.979C>T (p.Leu327Phe)

gnomAD frequency: 0.00002  dbSNP: rs71537678
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774918 SCV002004239 uncertain significance not provided 2019-12-02 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002506803 SCV002816536 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-10-15 criteria provided, single submitter clinical testing

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