Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000636524 | SCV000757963 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002225701 | SCV002504611 | likely benign | not provided | 2020-06-16 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Ambry Genetics | RCV003243224 | SCV003950179 | likely benign | Inborn genetic diseases | 2023-04-21 | 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. |