ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) (rs138753870)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618826 SCV000736843 benign Cardiovascular phenotype 2016-05-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172559 SCV000051402 likely benign not provided 2013-06-24 criteria provided, single submitter research
Color RCV000771156 SCV000903002 benign Cardiomyopathy 2018-03-07 criteria provided, single submitter clinical testing
GeneDx RCV000035656 SCV000208236 benign not specified 2017-12-11 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 RCV000206476 SCV000261419 benign Hypertrophic cardiomyopathy 2018-01-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035656 SCV000059307 benign not specified 2015-05-20 criteria provided, single submitter clinical testing p.Ser217Gly in exon 5 of MYBPC3: This variant is not expected to have clinical s ignificance because it has been identified in 1.2% (177/14558) of South Asian ch romosomes, including 4 homozygotes, by the Exome Aggregation Consortium (ExAC, h ttp://; dbSNP rs138753870).
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000035656 SCV000748014 likely benign not specified 2017-02-23 criteria provided, single submitter clinical testing
Stanford Center for Inherited Cardiovascular Disease,Stanford University RCV000172559 SCV000280276 likely benign not provided 2016-03-01 no assertion criteria provided provider interpretation reclassified based on 2015 re-review. Data from that re-review is summarized in DOI: 10.1161/CIRCGENETICS.116.001700.

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