Submissions for variant NM_000238.4(KCNH2):c.3436A>T (p.Thr1146Ser)

gnomAD frequency: 0.00005  dbSNP: rs778879572

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000340691	SCV000467501	uncertain significance	Long QT syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617989	SCV000737713	likely benign	Cardiovascular phenotype	2021-09-14	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.
Fulgent Genetics, Fulgent Genetics	RCV000765942	SCV000897363	uncertain significance	Short QT syndrome type 1; Long QT syndrome 2	2018-10-31	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001841270	SCV000914030	likely benign	Cardiac arrhythmia	2018-09-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000340691	SCV001000650	likely benign	Long QT syndrome	2024-01-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001706593	SCV004032783	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	KCNH2: BS1
Clinical Genetics, Academic Medical Center	RCV001706593	SCV001922597	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001706593	SCV001953638	likely benign	not provided		no assertion criteria provided	clinical testing