Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002164591 | SCV002333087 | likely benign | Exostoses, multiple, type 2 | 2023-02-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003968731 | SCV004780272 | likely benign | EXT2-related disorder | 2023-12-21 | 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). |