Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000615094 | SCV000723290 | likely benign | not specified | 2017-09-28 | 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. |
Ambry Genetics | RCV002358705 | SCV002649477 | likely benign | Inborn genetic diseases | 2017-11-27 | 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. |
Invitae | RCV003105991 | SCV003782656 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003488725 | SCV004237727 | uncertain significance | not provided | 2023-12-19 | criteria provided, single submitter | clinical testing |