ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) (rs587781246)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000213596 SCV000279258 benign not specified 2018-02-19 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.
Invitae RCV000551749 SCV000658919 likely benign Charcot-Marie-Tooth Neuropathy X 2019-12-31 criteria provided, single submitter clinical testing
Dept. of Medical Genetics, Telemark Hospital Trust RCV000144863 SCV000172134 pathogenic Charcot-Marie-Tooth disease 2013-11-01 no assertion criteria provided research pathogenic in males not in females

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