Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001436219 | SCV001639055 | likely benign | Transposition of the great arteries, dextro-looped | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001581130 | SCV001819549 | likely benign | not provided | 2020-12-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003946138 | SCV004763168 | likely benign | MED13L-related condition | 2023-07-24 | 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). |