ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) (rs201012766)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000248370 SCV000318209 benign Cardiovascular phenotype 2015-10-01 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000035642 SCV000051401 benign not specified 2013-06-24 criteria provided, single submitter research
CSER_CC_NCGL; University of Washington Medical Center RCV000148657 SCV000190373 likely benign Primary familial hypertrophic cardiomyopathy 2014-06-01 no assertion criteria provided research
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224311 SCV000281479 likely benign not provided 2016-04-08 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Color RCV000776191 SCV000911320 benign Cardiomyopathy 2018-07-03 criteria provided, single submitter clinical testing
GeneDx RCV000035642 SCV000170450 benign not specified 2017-04-24 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 RCV000625034 SCV000743579 likely benign Familial hypertrophic cardiomyopathy 4 2016-08-26 criteria provided, single submitter clinical testing
Invitae RCV000204771 SCV000261451 benign Hypertrophic cardiomyopathy 2017-12-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035642 SCV000059293 benign not specified 2014-12-03 criteria provided, single submitter clinical testing p.Arg177His in exon 5 of MYBPC3: This variant is not expected to have clinical s ignificance because it has been identified in 1.0% (42/4130) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu /EVS; dbSNP rs201012766).
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000035642 SCV000740363 likely benign not specified 2016-12-07 criteria provided, single submitter clinical testing

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