Submissions for variant NM_001232.4(CASQ2):c.738-7_738-5del

dbSNP: rs56889721

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625051	SCV000743626	benign	Catecholaminergic polymorphic ventricular tachycardia 2	2016-05-04	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000768701	SCV000900071	benign	Cardiomyopathy	2017-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001572932	SCV001865762	benign	not provided	2019-08-10	criteria provided, single submitter	clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	RCV001724100	SCV001984141	benign	not specified	2020-02-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000625051	SCV004050819	benign	Catecholaminergic polymorphic ventricular tachycardia 2	2023-04-11	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572932	SCV001798055	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724100	SCV001959224	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001572932	SCV001963680	likely benign	not provided		no assertion criteria provided	clinical testing