Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001423887 | SCV001626476 | likely benign | Cystic fibrosis | 2018-09-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001423887 | SCV002706004 | likely benign | Cystic fibrosis | 2022-10-12 | 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, |
RCV001826945 | SCV002078184 | likely benign | CFTR-related disorders | 2021-05-25 | no assertion criteria provided | clinical testing |