Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000245376 | SCV000319625 | likely benign | Cardiovascular phenotype | 2015-05-21 | 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. |
Invitae | RCV000862967 | SCV001003548 | likely benign | Hypertrophic cardiomyopathy | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001183745 | SCV001349561 | likely benign | Cardiomyopathy | 2018-10-30 | criteria provided, single submitter | clinical testing |