Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000248984 | SCV000305489 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV001711661 | SCV000512623 | likely benign | not provided | 2020-11-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000539803 | SCV000658094 | benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317779 | SCV000849532 | likely benign | Inborn genetic diseases | 2017-05-09 | 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. |