Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CFTR- |
RCV001009409 | SCV001169321 | pathogenic | Cystic fibrosis | 2018-01-29 | criteria provided, single submitter | curation | |
Labcorp Genetics |
RCV001009409 | SCV001383402 | pathogenic | Cystic fibrosis | 2021-07-21 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val201Cysfs*14) in the CFTR gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with CFTR-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922). |
Baylor Genetics | RCV004566886 | SCV005057421 | pathogenic | Bronchiectasis with or without elevated sweat chloride 1 | 2024-03-16 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001831800 | SCV002078118 | pathogenic | CFTR-related disorder | 2017-03-17 | no assertion criteria provided | clinical testing |