Submissions for variant NM_000256.3(MYBPC3):c.246T>C (p.Ile82=)

gnomAD frequency: 0.00016  dbSNP: rs372502369

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035491	SCV000059141	likely benign	not specified	2011-11-17	criteria provided, single submitter	clinical testing	This variant is not expected to have clinical significance because it does not a lter an amino acid residue and is not located near a splice junction. Therefore, this variant is most likely benign.
Eurofins Ntd Llc (ga)	RCV000725021	SCV000333270	uncertain significance	not provided	2015-08-10	criteria provided, single submitter	clinical testing
Invitae	RCV001083822	SCV000750013	likely benign	Hypertrophic cardiomyopathy	2024-01-24	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000777954	SCV000914053	likely benign	Cardiomyopathy	2018-05-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000725021	SCV001148288	uncertain significance	not provided	2019-04-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000725021	SCV001940784	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002444465	SCV002734573	likely benign	Cardiovascular phenotype	2018-08-03	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000777954	SCV004239359	likely benign	Cardiomyopathy	2023-01-09	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003964841	SCV004784593	likely benign	MYBPC3-related condition	2020-11-16	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).
Clinical Genetics, Academic Medical Center	RCV000035491	SCV001921525	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000725021	SCV001968106	likely benign	not provided		no assertion criteria provided	clinical testing