Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000554685 | SCV000658095 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2023-09-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315038 | SCV000848428 | likely benign | Inborn genetic diseases | 2016-12-08 | 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. |
Gene |
RCV001653927 | SCV001862163 | likely benign | not provided | 2018-06-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001653927 | SCV004124857 | likely benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | CHRNB2: BP4, BP7 |