Submissions for variant NM_000256.3(MYBPC3):c.2737+12C>T

gnomAD frequency: 0.03309  dbSNP: rs3729936

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035522	SCV000059172	benign	not specified	2011-09-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000035522	SCV000303191	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000613491	SCV000372316	benign	Hypertrophic cardiomyopathy 4	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.
Illumina Laboratory Services, Illumina	RCV000306221	SCV000372317	benign	Left ventricular noncompaction 10	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000613491	SCV000743548	benign	Hypertrophic cardiomyopathy 4	2014-10-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000613491	SCV000744835	benign	Hypertrophic cardiomyopathy 4	2015-09-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001536148	SCV001157464	benign	not provided	2023-10-23	criteria provided, single submitter	clinical testing
Invitae	RCV001510853	SCV001717996	benign	Hypertrophic cardiomyopathy	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001536148	SCV001752868	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27884173, 23711808)
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000613491	SCV000733036	benign	Hypertrophic cardiomyopathy 4		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000035522	SCV001918490	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000035522	SCV001953337	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV001510853	SCV003800597	benign	Hypertrophic cardiomyopathy	2022-10-10	no assertion criteria provided	clinical testing