Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698394 | SCV000534626 | likely benign | not provided | 2021-01-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000552826 | SCV000636482 | likely benign | Progressive myoclonic epilepsy | 2023-11-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002374713 | SCV002685120 | likely benign | Inborn genetic diseases | 2017-10-11 | 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. |