Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000499459 | SCV000597750 | uncertain significance | not specified | 2016-02-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000892757 | SCV001036655 | likely benign | not provided | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003902798 | SCV004720713 | likely benign | TUBGCP6-related condition | 2020-12-21 | 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). |