Submissions for variant NM_001232.4(CASQ2):c.784-17T>A

dbSNP: rs2997741

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000246614	SCV000307080	benign	not specified		criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000612121	SCV000743624	benign	Catecholaminergic polymorphic ventricular tachycardia 2	2014-10-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000612121	SCV000744943	benign	Catecholaminergic polymorphic ventricular tachycardia 2	2015-09-21	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000612121	SCV001775974	benign	Catecholaminergic polymorphic ventricular tachycardia 2	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001711804	SCV001945324	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002519900	SCV002407877	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2025-02-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001711804	SCV005280516	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000612121	SCV000733940	benign	Catecholaminergic polymorphic ventricular tachycardia 2		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000246614	SCV001924927	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV003126652	SCV003803656	likely benign	Catecholaminergic polymorphic ventricular tachycardia	2022-09-23	no assertion criteria provided	clinical testing