ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1216G>A (p.Ala406Thr)

gnomAD frequency: 0.00003  dbSNP: rs942866942
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002269488 SCV002552743 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002488669 SCV002792881 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-07-22 criteria provided, single submitter clinical testing

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