Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001503472 | SCV001708327 | likely benign | not provided | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003980452 | SCV004789454 | likely benign | TUBGCP6-related condition | 2021-11-04 | 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). |