Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000233699 | SCV000286964 | benign | Developmental and epileptic encephalopathy 94 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000419867 | SCV000526204 | benign | not specified | 2016-04-07 | 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 | RCV002317763 | SCV000851129 | likely benign | Inborn genetic diseases | 2016-07-28 | 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 |
RCV003390989 | SCV004130947 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | CHD2: BP4, BS1 |