Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000915292 | SCV001060493 | likely benign | Multiple congenital exostosis | 2023-09-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003970420 | SCV004782405 | likely benign | EXT1-related condition | 2019-08-21 | 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). |