Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV003231512 | SCV000603038 | benign | not specified | 2021-01-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001510196 | SCV001717170 | benign | Cystic fibrosis | 2021-12-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004535638 | SCV004756193 | likely benign | CFTR-related disorder | 2023-09-21 | 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). |
Ambry Genetics | RCV001510196 | SCV005035753 | likely benign | Cystic fibrosis | 2024-01-30 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |