Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000903177 | SCV001047632 | benign | not provided | 2023-07-19 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002495461 | SCV002801586 | likely benign | 4p partial monosomy syndrome | 2021-10-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003932857 | SCV004747533 | benign | FGFRL1-related disorder | 2019-02-22 | 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). |