Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000532446 | SCV000641823 | likely benign | Vici syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004751591 | SCV005348319 | likely benign | EPG5-related disorder | 2024-03-27 | no assertion criteria provided | 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). |