ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2800C>T (p.Leu934=) (rs367980215)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621573 SCV000740017 likely benign Cardiovascular phenotype 2017-01-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769313 SCV000900691 likely benign Cardiomyopathy 2017-08-24 criteria provided, single submitter clinical testing
Color RCV000769313 SCV000913825 benign Cardiomyopathy 2018-10-02 criteria provided, single submitter clinical testing
Invitae RCV000527686 SCV000623575 likely benign Hypertrophic cardiomyopathy 2017-04-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035527 SCV000059177 likely benign not specified 2012-07-24 criteria provided, single submitter clinical testing Leu934Leu in exon 27 of MYBPC3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 1/8304 European Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Leu934Leu in exon 27 of MYBPC3 (allele fre quency = 1/8304) **

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