Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001449147 | SCV001652253 | likely benign | Developmental and epileptic encephalopathy, 12 | 2023-09-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003930380 | SCV004744297 | likely benign | PNKP-related condition | 2019-03-21 | 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). |