Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002075032 | SCV002373031 | benign | not provided | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002075032 | SCV004185033 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | COL11A1: BP4 |
Prevention |
RCV004543763 | SCV004788137 | likely benign | COL11A1-related disorder | 2023-04-20 | 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). |