Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000969923 | SCV001117471 | likely benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000969923 | SCV001945227 | benign | not provided | 2021-05-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000969923 | SCV002822413 | likely benign | not provided | 2024-05-01 | criteria provided, single submitter | clinical testing | CACNA1G: BS1 |
Prevention |
RCV004535953 | SCV004728187 | likely benign | CACNA1G-related disorder | 2019-04-30 | 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). |