Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000868252 | SCV001009557 | likely benign | Alstrom syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001585826 | SCV001818346 | likely benign | not provided | 2020-11-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002416024 | SCV002679465 | likely benign | Cardiovascular phenotype | 2019-06-29 | 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, |
RCV000868252 | SCV001455471 | uncertain significance | Alstrom syndrome | 2020-02-13 | no assertion criteria provided | clinical testing |