Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000653200 | SCV000775076 | likely benign | Developmental and epileptic encephalopathy, 30 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317898 | SCV000850020 | benign | Inborn genetic diseases | 2018-12-18 | criteria provided, single submitter | clinical testing | This alteration is classified as 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 |
RCV003432711 | SCV004153756 | benign | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | SIK1: BS1, BS2 |