Submissions for variant NM_000218.3(KCNQ1):c.1795-4G>A

gnomAD frequency: 0.00006  dbSNP: rs769865006

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000215526	SCV000270312	likely benign	not specified	2015-01-22	criteria provided, single submitter	clinical testing	c.1795-4G>A in intron 15 of KCNQ1: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 4/12168 European chromosomes by the Exome Aggregation Co nsortium (ExAC, http://exac.broadinstitute.org).
Invitae	RCV000538761	SCV000627388	likely benign	Long QT syndrome	2023-03-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000215526	SCV000716417	likely benign	not specified	2017-02-23	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	RCV001842971	SCV001345190	likely benign	Cardiac arrhythmia	2018-10-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003897470	SCV004708548	likely benign	KCNQ1-related condition	2022-10-11	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).