ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.906G>A (p.Ala302=)

dbSNP: rs200762150
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001843112 SCV001347216 likely benign Cardiac arrhythmia 2019-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001494200 SCV001698849 likely benign Long QT syndrome 2024-03-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003222248 SCV003916664 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing KCNQ1: BP4, BP7
All of Us Research Program, National Institutes of Health RCV001494200 SCV004838806 likely benign Long QT syndrome 2024-08-30 criteria provided, single submitter clinical testing

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