Submissions for variant NM_000238.4(KCNH2):c.2376C>T (p.Gly792=)

gnomAD frequency: 0.00007  dbSNP: rs745993706

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000430474	SCV000513228	likely benign	not specified	2017-07-24	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	RCV000465907	SCV000543468	likely benign	Long QT syndrome	2024-11-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617758	SCV000737432	likely benign	Cardiovascular phenotype	2018-09-17	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	RCV001841286	SCV001344550	likely benign	Cardiac arrhythmia	2018-12-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000430474	SCV004121843	likely benign	not specified	2023-10-19	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000465907	SCV004843909	likely benign	Long QT syndrome	2024-01-06	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000430474	SCV001924878	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702441	SCV001930106	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001702441	SCV001955797	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004551425	SCV004787669	likely benign	KCNH2-related disorder	2024-07-03	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).