Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001410038 | SCV001612079 | likely benign | Cystic fibrosis | 2022-09-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001410038 | SCV002710562 | likely benign | Cystic fibrosis | 2021-01-24 | 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, |
RCV001827090 | SCV002080657 | likely benign | CFTR-related disorders | 2018-06-25 | no assertion criteria provided | clinical testing |