ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1252-15T>C

gnomAD frequency: 0.00002  dbSNP: rs367880913
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616260 SCV000724538 likely benign not specified 2017-11-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV001841509 SCV001353241 likely benign Cardiac arrhythmia 2019-01-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531590 SCV003294321 likely benign Long QT syndrome 2024-04-04 criteria provided, single submitter clinical testing

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