Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704426 | SCV000529775 | likely benign | not provided | 2021-06-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000530576 | SCV000652509 | benign | Developmental and epileptic encephalopathy, 36 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000530576 | SCV002524921 | benign | Developmental and epileptic encephalopathy, 36 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000530576 | SCV002810782 | likely benign | Developmental and epileptic encephalopathy, 36 | 2021-12-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003970199 | SCV004782348 | likely benign | ALG13-related condition | 2020-08-20 | 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). |