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

dbSNP: rs550005589

Total submissions: 6

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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002067274	SCV002385743	likely benign	Long QT syndrome	2025-01-30	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV002067274	SCV005426358	likely benign	Long QT syndrome	2024-08-06	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