Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001697854 | SCV000720874 | likely benign | not provided | 2020-01-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000866247 | SCV001007315 | likely benign | Hypertrophic cardiomyopathy | 2023-07-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001186688 | SCV001353240 | likely benign | Cardiomyopathy | 2018-11-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002395579 | SCV002699171 | likely benign | Cardiovascular phenotype | 2022-07-06 | 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. |