ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn) (rs376736293)

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Total submissions: 8
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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 RCV000172011 SCV000050987 uncertain significance Hypertrophic cardiomyopathy 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035439 SCV000059087 uncertain significance not specified 2018-05-21 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Ambry Genetics RCV000245060 SCV000320269 likely benign Cardiovascular phenotype 2019-01-02 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
Invitae RCV000172011 SCV000546466 likely benign Hypertrophic cardiomyopathy 2019-12-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769330 SCV000900708 benign Cardiomyopathy 2017-10-30 criteria provided, single submitter clinical testing
Color RCV000769330 SCV000913766 likely benign Cardiomyopathy 2018-08-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001106188 SCV001263227 uncertain significance Familial hypertrophic cardiomyopathy 4 2017-04-28 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001106189 SCV001263228 benign Left ventricular noncompaction 10 2017-04-28 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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