Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001509830 | SCV001716722 | benign | Multiple congenital exostosis | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003966050 | SCV004780547 | likely benign | EXT1-related disorder | 2022-02-25 | 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). |