ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1394-13_1394-12del

dbSNP: rs550005589
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001841911 SCV000907458 likely benign Cardiac arrhythmia 2018-08-17 criteria provided, single submitter clinical testing
GeneDx RCV000829878 SCV000971610 likely benign not provided 2018-06-12 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.
Invitae RCV002067274 SCV002385743 likely benign Long QT syndrome 2023-10-24 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700458 SCV001921569 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001700458 SCV001957094 benign not specified no assertion criteria provided clinical testing

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