Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000891007 | SCV001034793 | likely benign | Developmental and epileptic encephalopathy, 36 | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003975627 | SCV004789262 | likely benign | ALG13-related condition | 2019-05-10 | 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). |