Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000650191 | SCV000772028 | likely benign | Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002360639 | SCV002658941 | likely benign | Inborn genetic diseases | 2017-07-26 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Ce |
RCV003437375 | SCV004164654 | likely benign | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | ARX: BP4, BP7 |