Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000985674 | SCV001134112 | uncertain significance | not provided | 2019-08-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002067569 | SCV002423867 | likely benign | Cystic fibrosis | 2023-07-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002067569 | SCV002686904 | likely benign | Cystic fibrosis | 2022-04-19 | 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. |