ClinVar Miner

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

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245060 SCV000320269 uncertain significance Cardiovascular phenotype 2017-06-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172011 SCV000050987 uncertain significance Hypertrophic cardiomyopathy 2013-06-24 criteria provided, single submitter research
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
Invitae RCV000172011 SCV000546466 likely benign Hypertrophic cardiomyopathy 2017-04-13 criteria provided, single submitter clinical testing
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

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