Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000179189 | SCV000231396 | likely benign | not specified | 2015-04-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000179189 | SCV000243126 | benign | not specified | 2014-06-17 | 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 | RCV000636594 | SCV000758033 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317052 | SCV000851525 | likely benign | Inborn genetic diseases | 2017-02-01 | 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- |
RCV001808458 | SCV002056729 | benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV001529470 | SCV001742985 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001529470 | SCV001964380 | likely benign | not provided | no assertion criteria provided | clinical testing |