Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000662043 | SCV000784379 | uncertain significance | Vici syndrome | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000662043 | SCV002206211 | likely benign | Vici syndrome | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945691 | SCV004761307 | likely benign | EPG5-related condition | 2019-02-22 | 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). |