Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000501506 | SCV000597585 | uncertain significance | not specified | 2017-05-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000911862 | SCV001056942 | likely benign | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003935316 | SCV004766031 | likely benign | TRMT10A-related condition | 2022-08-10 | 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). |