Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000128271 | SCV000171863 | benign | not specified | 2013-03-27 | 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 | RCV000460533 | SCV000562963 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312615 | SCV000846416 | benign | Inborn genetic diseases | 2016-05-02 | criteria provided, single submitter | clinical testing | This alteration is classified as 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- |
RCV001808387 | SCV002056707 | benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003430703 | SCV004156428 | benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | SPTAN1: BP4, BP7, BS1, BS2 |