Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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, |
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. |
Ce |
RCV003390853 | SCV004130096 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | MYBPC3: BP4, BP7 |