ClinVar Miner

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

gnomAD frequency: 0.00014  dbSNP: rs587781246
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Total submissions: 6
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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 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362778 SCV002667032 likely benign Inborn genetic diseases 2020-05-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002483279 SCV002804179 likely benign Charcot-Marie-Tooth disease X-linked dominant 1 2022-04-12 criteria provided, single submitter clinical testing
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust RCV000144863 SCV000172134 pathogenic Charcot-Marie-Tooth disease 2013-11-01 no assertion criteria provided research pathogenic in males not in females
Natera, Inc. RCV000144863 SCV002087253 likely benign Charcot-Marie-Tooth disease 2020-01-22 no assertion criteria provided clinical testing

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