ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.671G>A (p.Arg224His)

gnomAD frequency: 0.00006  dbSNP: rs201697702
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086484 SCV001002537 benign Charcot-Marie-Tooth Neuropathy X 2024-01-22 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000862092 SCV001143683 benign not provided 2019-02-26 criteria provided, single submitter clinical testing
GeneDx RCV000862092 SCV002504527 likely benign not provided 2019-07-26 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002363211 SCV002664593 likely benign Inborn genetic diseases 2020-02-24 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 RCV002507468 SCV002806696 likely benign Charcot-Marie-Tooth disease X-linked dominant 1 2021-11-22 criteria provided, single submitter clinical testing

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