Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000505973 | SCV000601080 | likely pathogenic | not provided | 2016-01-05 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001004487 | SCV001163532 | likely pathogenic | Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation | criteria provided, single submitter | clinical testing | ||
CFTR- |
RCV001009453 | SCV001169525 | pathogenic | Cystic fibrosis | 2018-01-29 | criteria provided, single submitter | curation | |
Invitae | RCV001009453 | SCV001422236 | pathogenic | Cystic fibrosis | 2019-05-26 | criteria provided, single submitter | clinical testing | 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). This variant has not been reported in the literature in individuals with CFTR-related conditions. ClinVar contains an entry for this variant (Variation ID: 439069). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro936Glnfs*6) in the CFTR gene. It is expected to result in an absent or disrupted protein product. |
Institute of Human Genetics, |
RCV001009453 | SCV002573995 | pathogenic | Cystic fibrosis | 2022-09-05 | criteria provided, single submitter | curation | This variant was identified in 1 patient with a clinically confirmed diagnosis of cystic fibrosis. The variant was classified in the context of a project re-classifying variants in the German Cystic Fibrosis Registry (Muko.e.V.). Link: https://www.muko.info/angebote/qualitaetsmanagement/register/cf-einrichtungen/mukoweb. Criteria applied: PVS1, PM3, PM2_SUP, PP4 |