ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1713A>G (p.Ser571=)

dbSNP: rs1846718527
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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 RCV001841129 SCV001358639 likely benign Cardiac arrhythmia 2018-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002069140 SCV002460536 likely benign Long QT syndrome 2024-02-29 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002069140 SCV004836471 likely benign Long QT syndrome 2023-06-15 criteria provided, single submitter clinical testing

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