Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000867049 | SCV001008239 | likely benign | Arrhythmogenic right ventricular dysplasia 9 | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001255482 | SCV001431902 | likely benign | not specified | 2020-08-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003307615 | SCV003996561 | likely benign | Cardiovascular phenotype | 2023-05-01 | 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. |
Color Diagnostics, |
RCV003532292 | SCV004358910 | likely benign | Cardiomyopathy | 2022-11-06 | criteria provided, single submitter | clinical testing |