Submissions for variant NM_001232.4(CASQ2):c.1194T>C (p.Asp398=)

gnomAD frequency: 0.04871  dbSNP: rs28730711

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037135	SCV000060792	benign	not specified	2011-09-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000037135	SCV000307076	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000243615	SCV000317853	benign	Cardiovascular phenotype	2015-06-23	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Illumina Laboratory Services, Illumina	RCV000279846	SCV000347667	likely benign	Catecholaminergic polymorphic ventricular tachycardia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV002468990	SCV000482943	likely benign	Caudal regression sequence	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000336960	SCV000482944	likely benign	Neural tube defect	2016-06-14	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625047	SCV000743621	benign	Catecholaminergic polymorphic ventricular tachycardia 2	2016-11-17	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625047	SCV000744939	benign	Catecholaminergic polymorphic ventricular tachycardia 2	2015-09-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000625047	SCV001259003	benign	Catecholaminergic polymorphic ventricular tachycardia 2	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV002513464	SCV001720529	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001711118	SCV001939336	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000625047	SCV004050753	likely benign	Catecholaminergic polymorphic ventricular tachycardia 2	2023-04-11	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037135	SCV001925656	benign	not specified		no assertion criteria provided	clinical testing