Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000868716 | SCV001010081 | likely benign | Alstrom syndrome | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002319998 | SCV002626454 | likely benign | Cardiovascular phenotype | 2019-10-18 | 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. |
Natera, |
RCV000868716 | SCV001459597 | uncertain significance | Alstrom syndrome | 2019-12-24 | no assertion criteria provided | clinical testing |