Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000128232 | SCV000171824 | benign | not specified | 2013-09-05 | 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. |
Genetic Services Laboratory, |
RCV000128232 | SCV000195060 | benign | not specified | 2017-04-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000229212 | SCV000286164 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000128232 | SCV000306752 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV002316416 | SCV000849528 | benign | Inborn genetic diseases | 2016-08-11 | 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. |
Genome- |
RCV001808357 | SCV002056640 | benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing |