ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.699G>A (p.Ser233=)

gnomAD frequency: 0.00002  dbSNP: rs769112084
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516197 SCV000613501 uncertain significance not specified 2016-10-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001439885 SCV001642785 likely benign Charcot-Marie-Tooth Neuropathy X 2022-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367717 SCV002665407 likely benign Inborn genetic diseases 2019-07-11 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.

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