Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000437471 | SCV000514766 | benign | not specified | 2015-03-19 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000636468 | SCV000757907 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317865 | SCV000851704 | likely benign | Inborn genetic diseases | 2017-05-22 | 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. |
Genome- |
RCV001808779 | SCV002056682 | benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV001573167 | SCV001798612 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001573167 | SCV001926820 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001573167 | SCV001963660 | likely benign | not provided | no assertion criteria provided | clinical testing |