Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000440323 | SCV000520570 | likely benign | not specified | 2017-03-03 | 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. |
Ce |
RCV000871583 | SCV001155747 | uncertain significance | not provided | 2017-09-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001808808 | SCV002056535 | likely benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001861503 | SCV002187959 | uncertain significance | Early infantile epileptic encephalopathy with suppression bursts | 2021-09-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003343815 | SCV004074214 | likely benign | Inborn genetic diseases | 2023-06-30 | 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. |