Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000887493 | SCV001031050 | likely benign | Developmental and epileptic encephalopathy, 30 | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002427243 | SCV002727539 | likely benign | Inborn genetic diseases | 2018-10-23 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 |
RCV003432879 | SCV004153735 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | SIK1: BP4, BP7 |