Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000214631 | SCV000270787 | likely benign | not specified | 2015-01-02 | criteria provided, single submitter | clinical testing | p.Pro1059Pro in c.3177A>G of RBM20: This variant is not expected to have clinica l significance because it does not alter an amino acid residue and is not locate d within the splice consensus sequence. It has been identified in 1/2260 of Afri can American chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org). |
Invitae | RCV000469286 | SCV000562795 | likely benign | Dilated cardiomyopathy 1DD | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000619255 | SCV000737187 | likely benign | Cardiovascular phenotype | 2016-11-09 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000770283 | SCV000901715 | likely benign | Cardiomyopathy | 2022-11-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001563366 | SCV001786296 | likely benign | not provided | 2020-12-16 | criteria provided, single submitter | clinical testing |