Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000440062 | SCV000518509 | benign | not specified | 2015-12-10 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV002311460 | SCV000846442 | benign | Inborn genetic diseases | 2016-03-13 | criteria provided, single submitter | clinical testing | This alteration is classified as 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 | RCV001511775 | SCV001719072 | benign | Developmental and epileptic encephalopathy, 36 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001511775 | SCV002524915 | benign | Developmental and epileptic encephalopathy, 36 | 2021-12-05 | criteria provided, single submitter | clinical testing |