Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001205200 | SCV001376441 | likely benign | Transposition of the great arteries, dextro-looped | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Daryl Scott Lab, |
RCV001205200 | SCV002567937 | uncertain significance | Transposition of the great arteries, dextro-looped | 2022-08-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003393882 | SCV004132039 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | MED13L: PP2, BS2 |
Prevention |
RCV003928784 | SCV004746696 | likely benign | MED13L-related condition | 2020-09-23 | 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). |