Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CFTR- |
RCV001009461 | SCV001169539 | pathogenic | Cystic fibrosis | 2018-01-29 | criteria provided, single submitter | curation | |
Labcorp Genetics |
RCV001009461 | SCV003440162 | pathogenic | Cystic fibrosis | 2023-02-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 53439). This premature translational stop signal has been observed in individual(s) with cystic fibrosis (PMID: 18955805). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg697Lysfs*33) 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 | RCV003473475 | SCV004213462 | pathogenic | Bronchiectasis with or without elevated sweat chloride 1 | 2023-07-15 | criteria provided, single submitter | clinical testing |