Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000551805 | SCV000634926 | benign | Epileptic encephalopathy | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003942777 | SCV004760133 | likely benign | FASN-related disorder | 2019-04-09 | 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). |