Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000504497 | SCV000597761 | uncertain significance | not specified | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000887303 | SCV001030853 | likely benign | not provided | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925494 | SCV004743844 | likely benign | TUBGCP6-related condition | 2019-10-28 | 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). |