Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001518787 | SCV001727546 | benign | Cystic fibrosis | 2021-12-13 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001810745 | SCV002048623 | benign | not provided | 2020-12-22 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV002246400 | SCV002518176 | benign | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002501810 | SCV002807492 | likely benign | Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation | 2021-08-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004533941 | SCV004741646 | likely benign | CFTR-related disorder | 2021-03-10 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |