Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001491409 | SCV001696003 | likely benign | not provided | 2023-11-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908760 | SCV004719493 | likely benign | CNGA3-related disorder | 2023-08-04 | 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). |
Clinical Genetics, |
RCV001729923 | SCV001978968 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001491409 | SCV001979979 | likely benign | not provided | no assertion criteria provided | clinical testing |