Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001702475 | SCV000520803 | likely benign | not provided | 2019-11-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000863401 | SCV001004053 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002356546 | SCV002619499 | likely benign | Inborn genetic diseases | 2017-09-29 | 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. |
Ce |
RCV001702475 | SCV004010161 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | SCN8A: BP4, BS1 |
Genome Diagnostics Laboratory, |
RCV001702475 | SCV001928242 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001702475 | SCV001971382 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001702475 | SCV001979657 | likely benign | not provided | no assertion criteria provided | clinical testing |