Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000592027 | SCV000702504 | uncertain significance | not provided | 2016-10-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003603058 | SCV001117557 | likely benign | Multiple congenital exostosis | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003980078 | SCV004787711 | likely benign | EXT1-related disorder | 2019-04-04 | 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). |