Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000865586 | SCV001134114 | uncertain significance | not provided | 2019-03-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001405872 | SCV001607813 | likely benign | Cystic fibrosis | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001405872 | SCV001822057 | likely benign | Cystic fibrosis | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001593079 | SCV001822058 | uncertain significance | Congenital bilateral aplasia of vas deferens from CFTR mutation | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001405872 | SCV002708131 | likely benign | Cystic fibrosis | 2022-05-26 | 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. |