Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001357611 | SCV000171822 | benign | not provided | 2018-11-16 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26539891, 31180159) |
Genetic Services Laboratory, |
RCV000128230 | SCV000195054 | benign | not specified | 2016-02-08 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000128230 | SCV000331607 | benign | not specified | 2015-11-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000458268 | SCV000562991 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312608 | SCV000847210 | benign | Inborn genetic diseases | 2017-02-10 | 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. |
Mendelics | RCV000988260 | SCV001137914 | benign | Developmental and epileptic encephalopathy, 5 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000988260 | SCV002056529 | benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001357611 | SCV002498054 | benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | SPTAN1: PP2, BP4, BS1, BS2 |
Lupski Lab, |
RCV000454129 | SCV000537980 | likely pathogenic | Abnormal brain morphology | flagged submission | research | ||
Department of Pathology and Laboratory Medicine, |
RCV001357611 | SCV001553131 | uncertain significance | not provided | no assertion criteria provided | clinical testing |