Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665145 | SCV000789214 | uncertain significance | Alstrom syndrome | 2017-01-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000665145 | SCV001701309 | likely benign | Alstrom syndrome | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002406504 | SCV002675301 | likely benign | Cardiovascular phenotype | 2020-03-16 | 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, |
RCV000665145 | SCV001465808 | uncertain significance | Alstrom syndrome | 2020-08-15 | no assertion criteria provided | clinical testing |