Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000128250 | SCV000171842 | benign | not specified | 2014-03-05 | 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 | RCV001461602 | SCV001665505 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2022-08-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001808371 | SCV002056673 | benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002326842 | SCV002630352 | likely benign | Inborn genetic diseases | 2017-11-29 | 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. |
Ce |
RCV003430699 | SCV004156416 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | SPTAN1: BP4, BP7 |