Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CFTR- |
RCV001009362 | SCV001169215 | benign | Cystic fibrosis | 2018-01-29 | criteria provided, single submitter | curation | the variant does not result in CFTR-RD neither |
ARUP Laboratories, |
RCV003656638 | SCV001471668 | benign | not provided | 2023-11-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001009362 | SCV001726689 | benign | Cystic fibrosis | 2021-11-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003915409 | SCV004735715 | likely benign | CFTR-related condition | 2021-03-04 | criteria provided, single submitter | 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). |