Submissions for variant NM_000256.3(MYBPC3):c.2149-5C>T

gnomAD frequency: 0.00014  dbSNP: rs36211722

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035467	SCV000059115	likely benign	not specified	2012-08-21	criteria provided, single submitter	clinical testing	2149-5C>T in intron 22 of MYBPC3: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 2/120 Columbian chromosomes from a broad population by th e 1000 Genomes project and in 3% (9/300) of Indian chromosomes from a population that included both unaffected individuals and individuals with HCM (dbSNP rs362 11722).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000227580	SCV000284220	benign	Hypertrophic cardiomyopathy	2025-01-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000244185	SCV000318371	likely benign	Cardiovascular phenotype	2018-11-29	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.
Illumina Laboratory Services, Illumina	RCV000625024	SCV000372341	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.
Illumina Laboratory Services, Illumina	RCV000260943	SCV000372342	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625024	SCV000743557	likely benign	Hypertrophic cardiomyopathy 4	2017-07-28	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625024	SCV000744846	benign	Hypertrophic cardiomyopathy 4	2015-09-21	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000771142	SCV000902952	benign	Cardiomyopathy	2018-06-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001171654	SCV001334455	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	MYBPC3: BP4, BS2
GeneDx	RCV001171654	SCV001938534	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25351510)
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000771142	SCV004239354	benign	Cardiomyopathy	2023-01-13	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV000143913	SCV000188786	likely benign	Primary familial hypertrophic cardiomyopathy	2014-02-11	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000035467	SCV001919905	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001171654	SCV001953545	likely benign	not provided		no assertion criteria provided	clinical testing