Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001510823 | SCV001717961 | benign | Epileptic encephalopathy | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003942992 | SCV004763842 | likely benign | FASN-related condition | 2020-11-25 | 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). |