Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000992885 | SCV000242831 | likely benign | not provided | 2020-07-06 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 31780880) |
Invitae | RCV000557992 | SCV000639651 | likely benign | Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000992885 | SCV001145466 | likely benign | not provided | 2019-04-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002372154 | SCV002686779 | likely benign | Inborn genetic diseases | 2019-05-21 | 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. |
Revvity Omics, |
RCV000992885 | SCV003820759 | uncertain significance | not provided | 2019-08-23 | criteria provided, single submitter | clinical testing |