Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000504214 | SCV000593234 | uncertain significance | not specified | 2016-12-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000863105 | SCV001003706 | likely benign | Spastic paraplegia | 2023-11-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003942622 | SCV004765937 | likely benign | AP4E1-related condition | 2019-12-18 | 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). |