Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082686 | SCV000114730 | benign | not specified | 2016-05-18 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000082686 | SCV000151529 | benign | not specified | 2013-04-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001703418 | SCV000169979 | benign | not provided | 2020-08-28 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28038823) |
Preventiongenetics, |
RCV000082686 | SCV000316430 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Athena Diagnostics Inc | RCV000020987 | SCV000677326 | benign | Seizures, benign familial neonatal, 1 | 2017-04-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311522 | SCV000846159 | 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 | RCV000860235 | SCV001000216 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001730475 | SCV001980905 | benign | Developmental and epileptic encephalopathy, 7 | 2021-08-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000020987 | SCV001980906 | benign | Seizures, benign familial neonatal, 1 | 2021-08-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000020987 | SCV000041631 | not provided | Seizures, benign familial neonatal, 1 | no assertion provided | literature only | ||
Diagnostic Laboratory, |
RCV000082686 | SCV001740332 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000082686 | SCV001928181 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000082686 | SCV001953649 | benign | not specified | no assertion criteria provided | clinical testing | ||
Channelopathy- |
RCV003315299 | SCV004015044 | not provided | Complex neurodevelopmental disorder | no assertion provided | literature only |