ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=) (rs200162906)

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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 RCV000247401 SCV000319139 likely benign Cardiovascular phenotype 2016-03-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770318 SCV000901752 likely benign Cardiomyopathy 2016-06-03 criteria provided, single submitter clinical testing
Color RCV000770318 SCV000913749 benign Cardiomyopathy 2018-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000035611 SCV000513766 benign not specified 2015-03-31 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.
Illumina Clinical Services Laboratory,Illumina RCV000395100 SCV000372276 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314175 SCV000372277 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371124 SCV000372278 uncertain significance Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000395100 SCV000558145 benign Hypertrophic cardiomyopathy 2017-12-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035611 SCV000059262 likely benign not specified 2015-11-06 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
PreventionGenetics RCV000035611 SCV000303195 likely benign not specified criteria provided, single submitter clinical testing

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