ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1764C>T (p.Ile588=)

gnomAD frequency: 0.00001  dbSNP: rs377206449
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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 RCV001842716 SCV001342360 likely benign Cardiac arrhythmia 2019-10-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001434975 SCV001637793 likely benign Long QT syndrome 2024-12-12 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001434975 SCV004836481 likely benign Long QT syndrome 2023-05-04 criteria provided, single submitter clinical testing

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