ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.933G>C (p.Ser311=) (rs374326087)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621459 SCV000740249 likely benign Cardiovascular phenotype 2016-11-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000777843 SCV000913844 likely benign Cardiomyopathy 2018-06-25 criteria provided, single submitter clinical testing
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 2017-12-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare 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) **

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