Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000502985 | SCV000593654 | benign | not specified | 2017-05-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000528384 | SCV000652274 | benign | Neonatal-onset encephalopathy with rigidity and seizures | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001546321 | SCV001765817 | likely benign | not provided | 2020-10-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002506220 | SCV002810700 | likely benign | Neonatal-onset encephalopathy with rigidity and seizures; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 2021-09-02 | criteria provided, single submitter | clinical testing |