Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000895949 | SCV001040018 | benign | not provided | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000895949 | SCV001801020 | likely benign | not provided | 2020-03-12 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001818708 | SCV002070872 | likely benign | not specified | 2019-10-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000895949 | SCV002821139 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | TUBGCP6: BP4, BP7 |
Prevention |
RCV003920839 | SCV004728911 | likely benign | TUBGCP6-related condition | 2019-09-26 | 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). |