ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1356G>T (p.Arg452=)

gnomAD frequency: 0.00001  dbSNP: rs753619991
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621426 SCV000735874 likely benign Cardiovascular phenotype 2017-05-16 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.
Color Diagnostics, LLC DBA Color Health RCV001841788 SCV001351445 likely benign Cardiac arrhythmia 2019-05-04 criteria provided, single submitter clinical testing
GeneDx RCV001619810 SCV001844238 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002066923 SCV002415755 likely benign Long QT syndrome 2024-05-21 criteria provided, single submitter clinical testing

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