Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000897447 | SCV001041592 | likely benign | Vici syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003950497 | SCV004769092 | likely benign | EPG5-related condition | 2019-12-19 | 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). |