Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001719697 | SCV000491213 | likely benign | not provided | 2018-05-21 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22206818, 19396344, 20308251, 22787601, 19717338, 26645412, 18514161) |
Athena Diagnostics Inc | RCV000414639 | SCV000613367 | uncertain significance | not specified | 2017-05-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001460762 | SCV001664641 | likely benign | Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 | 2022-01-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002326679 | SCV002635407 | likely benign | Inborn genetic diseases | 2019-06-21 | 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. |
OMIM | RCV000017576 | SCV000037848 | risk factor | Epilepsy, childhood absence, susceptibility to, 5 | 2008-06-01 | no assertion criteria provided | literature only |