ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1758C>T (p.Pro586=)

gnomAD frequency: 0.00003  dbSNP: rs727505203
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Total submissions: 5
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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 RCV000156696 SCV000206417 likely benign not specified 2014-07-24 criteria provided, single submitter clinical testing Pro586Pro in exon 18 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.
Color Diagnostics, LLC DBA Color Health RCV001190197 SCV001357637 likely benign Cardiomyopathy 2018-11-03 criteria provided, single submitter clinical testing
Invitae RCV001502695 SCV001707530 likely benign Hypertrophic cardiomyopathy 2021-03-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399560 SCV002711695 likely benign Cardiovascular phenotype 2020-12-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen RCV003390853 SCV004130096 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing MYBPC3: BP4, BP7

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