Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000820325 | SCV000961033 | uncertain significance | Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related | 2021-09-01 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001332908 | SCV001525351 | uncertain significance | Developmental and epileptic encephalopathy, 1 | 2019-07-03 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |