Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194099 | SCV000246566 | uncertain significance | not specified | 2014-11-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000650185 | SCV000772022 | likely benign | Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000720962 | SCV000851846 | likely benign | History of neurodevelopmental disorder | 2017-10-26 | criteria provided, single submitter | clinical testing | Synonymous alterations with insufficient evidence to classify as benign |
Gene |
RCV001711493 | SCV001939412 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001711493 | SCV004164659 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | ARX: BP4, BP7, BS2 |