Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000513321 | SCV000608645 | likely benign | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | SCN8A: BP4, BP7 |
Invitae | RCV001426434 | SCV001629086 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000513321 | SCV001783072 | likely benign | not provided | 2020-11-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002455984 | SCV002615812 | likely benign | Inborn genetic diseases | 2018-07-10 | 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. |