ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.879C>A (p.Arg293=)

dbSNP: rs181106858
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726365 SCV000344111 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000726365 SCV000728593 likely benign not provided 2021-05-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001843043 SCV002052714 likely benign Cardiac arrhythmia 2021-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059270 SCV002441796 likely benign Long QT syndrome 2021-10-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165770 SCV003900500 likely benign Cardiovascular phenotype 2023-02-12 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.
All of Us Research Program, National Institutes of Health RCV002059270 SCV004838799 likely benign Long QT syndrome 2023-10-23 criteria provided, single submitter clinical testing

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