Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000527465 | SCV000660131 | likely benign | Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000784961 | SCV000923506 | uncertain significance | Developmental and epileptic encephalopathy, 1 | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000784962 | SCV000923507 | uncertain significance | Early-onset Parkinson disease 20 | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000784963 | SCV000923508 | uncertain significance | Developmental and epileptic encephalopathy, 53 | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925742 | SCV004746132 | likely benign | SYNJ1-related disorder | 2019-06-17 | no assertion criteria provided | 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). |