ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1109C>A (p.Ala370Glu)

dbSNP: rs775362401
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001089528 SCV001244882 likely pathogenic Long QT syndrome 1 2019-09-10 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes RCV001089528 SCV004024209 likely pathogenic Long QT syndrome 1 2023-08-01 criteria provided, single submitter clinical testing

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