Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002190099 | SCV002360040 | benign | not provided | 2023-12-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004538800 | SCV004745277 | likely benign | COL11A1-related disorder | 2022-12-06 | 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). |