Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000642236 | SCV000763890 | likely benign | Vici syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905737 | SCV004725561 | likely benign | EPG5-related disorder | 2021-01-19 | 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). |