Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CFTR- |
RCV001009336 | SCV001169178 | benign | Cystic fibrosis | 2018-01-29 | criteria provided, single submitter | curation | the variant does not result in CFTR-RD neither |
Institute of Human Genetics, |
RCV001009336 | SCV002573956 | uncertain significance | 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: BP2, PM2_SUP |