Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000439302 | SCV000512624 | benign | not specified | 2015-06-23 | 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 | RCV000654356 | SCV000776246 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002323587 | SCV002608890 | likely benign | Inborn genetic diseases | 2018-04-12 | 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 |
RCV003884521 | SCV004701558 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | CHRNB2: BP4, BP7 |