Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000175460 | SCV000226942 | uncertain significance | not provided | 2015-04-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314609 | SCV000849215 | likely benign | Inborn genetic diseases | 2017-03-10 | 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. |
Invitae | RCV001089005 | SCV001010556 | likely benign | Cortical dysplasia-focal epilepsy syndrome | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000175460 | SCV001939460 | likely benign | not provided | 2019-04-08 | criteria provided, single submitter | clinical testing |