Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000642224 | SCV000763878 | benign | Vici syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965362 | SCV004779869 | benign | EPG5-related condition | 2023-02-07 | 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). |