ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.316-14T>C

dbSNP: rs749922151
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439042 SCV000527208 likely benign not specified 2016-05-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062781 SCV002341516 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488931 SCV002799143 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-09-22 criteria provided, single submitter clinical testing

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