Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673000 | SCV000798164 | uncertain significance | Cystic fibrosis | 2018-03-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000673000 | SCV001677386 | likely benign | Cystic fibrosis | 2023-10-06 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000969714 | SCV002774538 | uncertain significance | not provided | 2021-06-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004544932 | SCV004782347 | likely benign | CFTR-related disorder | 2022-02-28 | 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). |