ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp) (rs3729799)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035549 SCV000059199 benign not specified 2018-06-04 criteria provided, single submitter clinical testing This variant is classified as benign because it has been identified in 0.7% (182 /23792) of African chromosomes including 2 homozygotes, by the genome Aggregatio n Database (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs3729799). ACMG/AM P Criteria applied: BA1.
GeneDx RCV000035549 SCV000170441 benign not specified 2012-05-08 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 RCV000204590 SCV000260025 benign Hypertrophic cardiomyopathy 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619324 SCV000737015 benign Cardiovascular phenotype 2019-02-22 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000035549 SCV000748026 likely benign not specified 2013-09-26 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852649 SCV000995354 likely benign Cardiomyopathy 2017-06-06 criteria provided, single submitter clinical testing
Color Health, Inc RCV000852649 SCV001357597 benign Cardiomyopathy 2019-01-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001284907 SCV001471003 likely benign none provided 2019-12-09 criteria provided, single submitter clinical testing

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