ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1869C>T (p.Cys623=)

gnomAD frequency: 0.00005  dbSNP: rs397515932
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035447 SCV000059095 likely benign not specified 2012-10-24 criteria provided, single submitter clinical testing Cys623Cys in exon 19 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. Cys623Cys in exon 19 of MYBPC3 (allele freq uency = n/a)
Labcorp Genetics (formerly Invitae), Labcorp RCV000474422 SCV000558173 likely benign Hypertrophic cardiomyopathy 2024-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000035447 SCV000729095 benign not specified 2017-08-08 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769321 SCV000900699 likely benign Cardiomyopathy 2017-09-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000769321 SCV001345899 likely benign Cardiomyopathy 2019-06-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408505 SCV002721050 likely benign Cardiovascular phenotype 2022-07-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV004704819 SCV005224324 likely benign not provided criteria provided, single submitter not provided

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