Submissions for variant NM_000256.3(MYBPC3):c.933G>C (p.Ser311=)

dbSNP: rs374326087

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035686	SCV000059337	likely benign	not specified	2013-12-18	criteria provided, single submitter	clinical testing	Ser311Ser in exon 12 of MYBPC3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 2/8430 European Am erican chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washingt on.edu/EVS/). Ser311Ser in exon 12 of MYBPC3 (allele frequency = 2/8430) **
GeneDx	RCV000035686	SCV000170457	benign	not specified	2014-05-02	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.
Invitae	RCV000545784	SCV000623631	benign	Hypertrophic cardiomyopathy	2024-01-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621459	SCV000740249	likely benign	Cardiovascular phenotype	2016-11-02	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.
Color Diagnostics, LLC DBA Color Health	RCV000777843	SCV000913844	likely benign	Cardiomyopathy	2018-06-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001108495	SCV001265732	uncertain significance	Left ventricular noncompaction 10	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001108496	SCV001265733	uncertain significance	Hypertrophic cardiomyopathy 4	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV001531101	SCV001746069	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	MYBPC3: BP4, BP7