Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002141858 | SCV002414546 | benign | not provided | 2023-06-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003958779 | SCV004773613 | likely benign | VPS13D-related disorder | 2020-01-06 | 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). |