Submissions for variant NM_003476.5(CSRP3):c.150G>A (p.Ala50=)

gnomAD frequency: 0.03207  dbSNP: rs7124801

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037774	SCV000061436	benign	not specified	2008-12-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000037774	SCV000168046	benign	not specified	2012-12-06	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences	RCV000037774	SCV000309590	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000244162	SCV000318434	benign	Cardiovascular phenotype	2015-07-02	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	RCV000371899	SCV000369731	benign	Hypertrophic cardiomyopathy 12	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	RCV001082615	SCV000554548	benign	Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M	2024-02-01	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000845319	SCV000987362	likely benign	not provided		criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037774	SCV001922348	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000037774	SCV001930557	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037774	SCV001955760	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000037774	SCV001968572	benign	not specified		no assertion criteria provided	clinical testing