ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.420C>T (p.Ser140=)

gnomAD frequency: 0.00001  dbSNP: rs377520734
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781488 SCV000919555 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001841973 SCV001355104 likely benign Cardiac arrhythmia 2019-02-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061129 SCV002441319 likely benign Long QT syndrome 2023-10-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002332570 SCV002629484 likely benign Cardiovascular phenotype 2019-09-29 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.
GeneDx RCV003318637 SCV004022784 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
All of Us Research Program, National Institutes of Health RCV002061129 SCV004838741 likely benign Long QT syndrome 2024-01-11 criteria provided, single submitter clinical testing

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