Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000186929 | SCV000240500 | likely benign | not specified | 2018-03-13 | 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 | RCV001034146 | SCV001197473 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003243008 | SCV003951123 | likely benign | Inborn genetic diseases | 2023-03-20 | 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 |
RCV003326368 | SCV004033898 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | CHRNA4: BP4 |