Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000639596 | SCV000761174 | likely benign | Landau-Kleffner syndrome | 2023-05-22 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000639596 | SCV003817433 | uncertain significance | Landau-Kleffner syndrome | 2021-06-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003352957 | SCV004070847 | likely benign | Inborn genetic diseases | 2023-07-30 | 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. |