Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145052 | SCV000192092 | uncertain significance | epileptic encephalopathy, early infanitle, 1 | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000734606 | SCV000516658 | likely benign | not provided | 2018-11-27 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000734606 | SCV000862760 | uncertain significance | not provided | 2018-08-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087726 | SCV001011477 | likely benign | Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002444600 | SCV002753037 | likely benign | Inborn genetic diseases | 2018-11-21 | 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. |