Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000877899 | SCV001020709 | benign | Multiple congenital exostosis | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001655634 | SCV001866304 | benign | not provided | 2020-08-05 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27616605, 19810120) |
Prevention |
RCV003948263 | SCV004759115 | benign | EXT1-related condition | 2019-11-05 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |