Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002532007 | SCV000775864 | likely benign | Charcot-Marie-Tooth disease type 2 | 2023-05-07 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001176893 | SCV001340989 | likely benign | Cardiomyopathy | 2019-08-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003163011 | SCV003855245 | likely benign | Cardiovascular phenotype | 2023-02-14 | 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. |