Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147626 | SCV000195075 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000147626 | SCV000306754 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Athena Diagnostics Inc | RCV000713509 | SCV000844130 | benign | not provided | 2018-05-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312667 | SCV000846031 | benign | Inborn genetic diseases | 2015-12-31 | 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 | RCV001513756 | SCV001721429 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000713509 | SCV001856043 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001808405 | SCV002056662 | benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000147626 | SCV001739651 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000147626 | SCV001958453 | benign | not specified | no assertion criteria provided | clinical testing |