ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2260C>T (p.Leu754Phe)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004820322 SCV005441221 uncertain significance not provided 2024-06-25 criteria provided, single submitter clinical testing In silico analysis indicates 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 RCV005038719 SCV005667552 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2024-04-19 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817546 SCV005069265 uncertain significance Optic atrophy 2022-01-01 no assertion criteria provided clinical testing

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