Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV003656157 | SCV001160660 | likely benign | not provided | 2023-05-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001458655 | SCV001662480 | likely benign | Cystic fibrosis | 2023-08-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001458655 | SCV002730848 | likely benign | Cystic fibrosis | 2021-05-07 | 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. |