Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000577123 | SCV000886363 | pathogenic | Cystic fibrosis | 2022-05-20 | criteria provided, single submitter | clinical testing | |
CFTR- |
RCV000577123 | SCV001169275 | pathogenic | Cystic fibrosis | 2015-07-03 | criteria provided, single submitter | curation | |
Institute of Human Genetics, |
RCV000577123 | SCV002573979 | likely 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: PS3_SUP, PM3, PM2_SUP, PM5, PP3, PP4 |
Clin |
RCV000577123 | SCV000679053 | not provided | Cystic fibrosis | no assertion provided | literature only |