ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1173C>T (p.Thr391=)

gnomAD frequency: 0.00001  dbSNP: rs770808054
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000221889 SCV000270308 likely benign not specified 2015-02-20 criteria provided, single submitter clinical testing p.Thr391Thr in exon 9 of KCNQ1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 3/16510 of South A sian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadins titute.org).
Color Diagnostics, LLC DBA Color Health RCV001842969 SCV001354208 likely benign Cardiac arrhythmia 2018-10-17 criteria provided, single submitter clinical testing

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