Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001294551 | SCV001483432 | likely benign | not provided | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945973 | SCV004761321 | likely benign | TUBGCP6-related condition | 2019-03-22 | 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). |