ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.467T>C (p.Leu156Pro)

dbSNP: rs1589931156
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000845331 SCV000987377 likely pathogenic not provided criteria provided, single submitter clinical testing
Dept of Medical Biology, Uskudar University RCV003318389 SCV004021983 likely pathogenic Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: PS4_Moderate, PM1, PM2, PP3

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