Submissions for variant NM_001232.4(CASQ2):c.927C>T (p.Asp309=)

gnomAD frequency: 0.00005  dbSNP: rs749266321

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV002563269	SCV001692085	likely benign	Catecholaminergic polymorphic ventricular tachycardia 1	2023-08-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002377837	SCV002686649	likely benign	Cardiovascular phenotype	2021-12-09	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	RCV002495732	SCV002798600	likely benign	Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 2	2021-11-16	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003346580	SCV004050792	likely benign	Catecholaminergic polymorphic ventricular tachycardia 2	2023-04-11	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700757	SCV001923393	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001700757	SCV001954636	likely benign	not provided		no assertion criteria provided	clinical testing