Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001176008 | SCV001339821 | likely benign | Cardiomyopathy | 2019-11-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001426917 | SCV001629578 | likely benign | Charcot-Marie-Tooth disease type 2 | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002365834 | SCV002662502 | likely benign | Cardiovascular phenotype | 2019-08-12 | 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. |