ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1593G>A (p.Gly531=) (rs727503199)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000151123 SCV000198899 likely benign not specified 2013-05-31 criteria provided, single submitter clinical testing Gly531Gly in exon 17 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. Gly531Gly in exon 17 of MYBPC3 (allele freq uency = n/a)
GeneDx RCV000151123 SCV000729092 likely benign not specified 2017-06-19 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.
Ambry Genetics RCV000620223 SCV000735756 likely benign Cardiovascular phenotype 2017-01-26 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000608015 SCV000743560 likely benign Familial hypertrophic cardiomyopathy 4 2016-11-04 criteria provided, single submitter clinical testing
Color RCV001182269 SCV001347662 likely benign Cardiomyopathy 2018-11-25 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000608015 SCV000733049 likely benign Familial hypertrophic cardiomyopathy 4 no assertion criteria provided clinical testing

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