Submissions for variant NM_000218.3(KCNQ1):c.1514+7G>T

gnomAD frequency: 0.00006  dbSNP: rs372593469

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000218634	SCV000270310	likely benign	not specified	2015-04-17	criteria provided, single submitter	clinical testing	c.1514+7G>T in intron 11 of KCNQ1: This variant is not expected to have clinica l significance because it is not located within the invariant positions of the s plice site consensus sequence, and computational tools do not predict an impact to splicing. It has been identified in 5/8652 of East Asian chromosomes and in 3 /16508 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http:/ /exac.broadinstitute.org; dbSNP rs372593469).
GeneDx	RCV000218634	SCV000714531	likely benign	not specified	2017-04-26	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	RCV000866566	SCV001007679	benign	Long QT syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001310950	SCV001955435	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001310950	SCV001970805	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000218634	SCV001978899	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530296	SCV004712738	likely benign	KCNQ1-related disorder	2020-08-21	no assertion criteria provided	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).