Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704459 | SCV000530456 | benign | not provided | 2020-10-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002318477 | SCV000851149 | likely benign | Inborn genetic diseases | 2016-08-11 | 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. |
Invitae | RCV000951457 | SCV001097859 | benign | Developmental and epileptic encephalopathy, 31 | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821198 | SCV002071542 | benign | not specified | 2017-11-20 | criteria provided, single submitter | clinical testing |