ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu) (rs147315081)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757505 SCV000885758 benign not provided 2017-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618768 SCV000736385 benign Cardiovascular phenotype 2017-10-20 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
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000512634 SCV000608291 benign Cardiomyopathy 2017-10-16 criteria provided, single submitter clinical testing
Color RCV000512634 SCV000911582 benign Cardiomyopathy 2018-04-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035673 SCV000203048 benign not specified 2014-01-07 criteria provided, single submitter clinical testing
GeneDx RCV000035673 SCV000170453 benign not specified 2013-08-22 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625031 SCV000743570 benign Familial hypertrophic cardiomyopathy 4 2016-06-07 criteria provided, single submitter clinical testing
Invitae RCV000471595 SCV000558167 benign Hypertrophic cardiomyopathy 2018-01-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035673 SCV000059324 benign not specified 2016-04-26 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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