ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1257G>A (p.Lys419=)

gnomAD frequency: 0.00001  dbSNP: rs759955554
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001843241 SCV001351297 likely benign Cardiac arrhythmia 2019-06-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068403 SCV002462579 likely benign Long QT syndrome 2021-12-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002068403 SCV004836410 likely benign Long QT syndrome 2024-02-22 criteria provided, single submitter clinical testing

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