Submissions for variant NM_000238.4(KCNH2):c.1563C>T (p.Ile521=)

gnomAD frequency: 0.00097  dbSNP: rs143011005

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179737	SCV000232033	uncertain significance	not provided	2015-02-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082498	SCV000283963	benign	Long QT syndrome	2024-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000251581	SCV000318702	likely benign	Cardiovascular phenotype	2015-03-25	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health	RCV001842421	SCV000910814	benign	Cardiac arrhythmia	2018-03-08	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000179737	SCV001144312	benign	not provided	2018-12-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001159683	SCV001321411	benign	Long QT syndrome 2	2018-03-12	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001264431	SCV001442572	benign	not specified	2020-10-24	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000179737	SCV001471129	benign	not provided	2019-11-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000179737	SCV001746021	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	KCNH2: BP4, BP7, BS1, BS2
GeneDx	RCV000179737	SCV001894858	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV001082498	SCV004843975	benign	Long QT syndrome	2024-02-05	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001264431	SCV001925122	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001264431	SCV001929387	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001264431	SCV001957807	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001264431	SCV001969796	benign	not specified		no assertion criteria provided	clinical testing