Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002837689 | SCV003206165 | pathogenic | Cystic fibrosis | 2022-06-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CFTR-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg3Serfs*22) in the CFTR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922). |
Baylor Genetics | RCV003475430 | SCV004213525 | likely pathogenic | Bronchiectasis with or without elevated sweat chloride 1 | 2023-04-19 | criteria provided, single submitter | clinical testing |