ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=) (rs1052373)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755574 SCV000604330 benign not provided 2017-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000244915 SCV000317564 benign Cardiovascular phenotype 2015-03-11 criteria provided, single submitter clinical testing
Color RCV000771043 SCV000902544 benign Cardiomyopathy 2018-03-16 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000614355 SCV000745030 benign Familial hypertrophic cardiomyopathy 4 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000614355 SCV000733030 benign Familial hypertrophic cardiomyopathy 4 no assertion criteria provided clinical testing
GeneDx RCV000035574 SCV000170443 benign not specified 2012-09-25 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 RCV000614355 SCV000743675 benign Familial hypertrophic cardiomyopathy 4 2014-10-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288961 SCV000372288 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327595 SCV000372289 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384431 SCV000372290 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035574 SCV000059224 benign not specified 2008-06-20 criteria provided, single submitter clinical testing
PreventionGenetics RCV000035574 SCV000303193 benign not specified criteria provided, single submitter clinical testing

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