Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001343250 | SCV001537219 | benign | Multiple congenital exostosis | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925187 | SCV004738582 | likely benign | EXT1-related disorder | 2019-10-01 | 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). |
ITMI | RCV000120875 | SCV000085043 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Department of Pediatrics, |
RCV001252925 | SCV001164068 | uncertain significance | Microcephaly | no assertion criteria provided | research |