Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151083 | SCV000198832 | likely benign | not specified | 2013-08-07 | criteria provided, single submitter | clinical testing | Thr959Thr in exon 27 of the MYBPC3 gene: This variant does not alter an amino ac id residue and is not located within the conserved splice consensus sequence. Co mputational tools predict the creation of a novel splice site but their accuracy is unknown. In summary, this variant is more likely benign though a role in dis ease cannot be fully excluded. |
CHEO Genetics Diagnostic Laboratory, |
RCV000770334 | SCV000901768 | uncertain significance | Cardiomyopathy | 2015-11-19 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000770334 | SCV001352070 | likely benign | Cardiomyopathy | 2019-01-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001208725 | SCV001380130 | likely benign | Hypertrophic cardiomyopathy | 2022-09-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002433649 | SCV002751137 | likely benign | Cardiovascular phenotype | 2019-05-31 | 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. |
Clinical Genetics, |
RCV001698976 | SCV001917633 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001698976 | SCV001930269 | uncertain significance | not provided | no assertion criteria provided | clinical testing |