Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000932301 | SCV001077983 | likely benign | not provided | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003903089 | SCV004718375 | likely benign | TUBGCP6-related condition | 2019-08-12 | 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). |