Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001398162 | SCV001599929 | likely benign | Alstrom syndrome | 2019-09-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002341851 | SCV002638098 | likely benign | Cardiovascular phenotype | 2019-10-20 | 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. |