Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000186951 | SCV000240522 | likely benign | not provided | 2021-04-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000698178 | SCV000826824 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002390488 | SCV002704829 | likely benign | Inborn genetic diseases | 2019-07-31 | 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. |