Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187836 | SCV000241435 | benign | not specified | 2016-07-05 | 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 | RCV000460070 | SCV000555699 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317108 | SCV000849661 | benign | Inborn genetic diseases | 2019-04-15 | 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. |
Ce |
RCV003430736 | SCV004150911 | benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | KCNQ2: BS1, BS2 |