ClinVar Miner

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

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000035642 SCV000051401 benign not specified 2013-06-24 criteria provided, single submitter research
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).
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.
Invitae RCV001082260 SCV000261451 benign Hypertrophic cardiomyopathy 2019-12-31 criteria provided, single submitter clinical testing
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.
Ambry Genetics RCV000248370 SCV000318209 benign Cardiovascular phenotype 2015-10-01 criteria provided, single submitter clinical testing
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
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625034 SCV000743579 likely benign Familial hypertrophic cardiomyopathy 4 2016-08-26 criteria provided, single submitter clinical testing
Color RCV000776191 SCV000911320 benign Cardiomyopathy 2018-07-03 criteria provided, single submitter clinical testing
Mendelics RCV000625034 SCV001138319 benign Familial hypertrophic cardiomyopathy 4 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000035642 SCV001158254 likely benign not specified 2019-03-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000625034 SCV001265823 likely benign Familial hypertrophic cardiomyopathy 4 2018-03-23 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001108571 SCV001265824 likely benign Left ventricular noncompaction 10 2018-03-23 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CSER _CC_NCGL, University of Washington RCV000148657 SCV000190373 likely benign Primary familial hypertrophic cardiomyopathy 2014-06-01 no assertion criteria provided research

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