Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000863736 | SCV001004446 | likely benign | Cystic fibrosis | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000863736 | SCV002742361 | likely benign | Cystic fibrosis | 2016-02-24 | 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, |
RCV000863736 | SCV001455991 | uncertain significance | Cystic fibrosis | 2018-12-19 | no assertion criteria provided | clinical testing |