Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002317589 | SCV000851140 | likely benign | Inborn genetic diseases | 2019-01-25 | 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. |
Institute of Human Genetics, |
RCV001253636 | SCV001429465 | uncertain significance | Developmental and epileptic encephalopathy, 1 | 2018-06-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001504893 | SCV001709779 | likely benign | Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000722715 | SCV001945450 | likely benign | not provided | 2019-04-24 | criteria provided, single submitter | clinical testing | |
Gharavi Laboratory, |
RCV000722715 | SCV000853846 | uncertain significance | not provided | 2018-09-16 | no assertion criteria provided | research |