ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1140G>A (p.Arg380=)

gnomAD frequency: 0.00001  dbSNP: rs199472771
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251481 SCV000303042 likely benign not specified criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001843014 SCV001340634 likely benign Cardiac arrhythmia 2020-01-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001481280 SCV001685621 likely benign Long QT syndrome 2023-05-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001481280 SCV004836384 likely benign Long QT syndrome 2023-12-01 criteria provided, single submitter clinical testing

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