Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514817 | SCV000610782 | uncertain significance | not provided | 2017-03-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079956 | SCV000654456 | likely benign | Epilepsy, familial adult myoclonic, 5 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000514817 | SCV001150590 | uncertain significance | not provided | 2017-05-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003942678 | SCV004772892 | likely benign | CNTN2-related condition | 2020-01-09 | 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). |