Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001333590 | SCV001526221 | uncertain significance | Neonatal-onset encephalopathy with rigidity and seizures | 2018-08-30 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV001333590 | SCV001563562 | uncertain significance | Neonatal-onset encephalopathy with rigidity and seizures | 2021-08-27 | criteria provided, single submitter | clinical testing |