Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000932420 | SCV001078102 | likely benign | Vici syndrome | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003903091 | SCV004718722 | likely benign | EPG5-related condition | 2023-12-12 | 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). |