Submissions for variant NM_000256.3(MYBPC3):c.558G>T (p.Pro186=)

dbSNP: rs370962887

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035647	SCV000059298	benign	not specified	2015-06-19	criteria provided, single submitter	clinical testing	p.Pro186Pro in exon 5 of MYBPC3: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.7% (100/14728) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs370962887).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625033	SCV000743577	benign	Hypertrophic cardiomyopathy 4	2017-04-25	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625033	SCV000744873	likely benign	Hypertrophic cardiomyopathy 4	2017-06-28	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000771379	SCV000903681	benign	Cardiomyopathy	2018-04-07	criteria provided, single submitter	clinical testing
Invitae	RCV000862241	SCV001002720	benign	Hypertrophic cardiomyopathy	2023-12-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001106364	SCV001263425	benign	Left ventricular noncompaction 10	2018-01-13	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	RCV000625033	SCV001265820	likely benign	Hypertrophic cardiomyopathy 4	2018-01-13	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV001711095	SCV001941418	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002345275	SCV002648818	likely benign	Cardiovascular phenotype	2019-06-06	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.
PreventionGenetics, part of Exact Sciences	RCV004549433	SCV004735035	likely benign	MYBPC3-related disorder	2024-02-27	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health	RCV000862241	SCV004834759	benign	Hypertrophic cardiomyopathy	2024-01-11	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000035647	SCV001918150	benign	not specified		no assertion criteria provided	clinical testing