Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001711474 | SCV000240497 | likely benign | not provided | 2018-03-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001034147 | SCV001197474 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002513982 | SCV003746972 | likely benign | Inborn genetic diseases | 2022-08-16 | 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 |
RCV001711474 | SCV004033901 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | CHRNA4: BP5 |