Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000502620 | SCV000597757 | likely benign | not specified | 2016-04-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000897583 | SCV001041735 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000897583 | SCV001962453 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | TUBGCP6: BP4, BP7 |
Prevention |
RCV003962406 | SCV004777206 | likely benign | TUBGCP6-related condition | 2019-11-07 | 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). |