Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035609 | SCV000059260 | likely benign | not specified | 2012-03-22 | criteria provided, single submitter | clinical testing | Val1235Val in exon 33 of MYBPC3: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and it is not locate d within the splice consensus sequence. Val1235Val in exon 33 of MYBPC3 (allel e frequency = n/a) |
Color Diagnostics, |
RCV001180865 | SCV001345906 | likely benign | Cardiomyopathy | 2019-04-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001501703 | SCV001706520 | likely benign | Hypertrophic cardiomyopathy | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003372601 | SCV004087653 | likely benign | Cardiovascular phenotype | 2023-08-07 | 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. |