Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001172194 | SCV000525199 | likely benign | not provided | 2021-03-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000866284 | SCV001007359 | likely benign | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001172194 | SCV001335177 | likely benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | KCNT1: BP4, BP7 |
Genome- |
RCV002270302 | SCV002555318 | likely benign | Developmental and epileptic encephalopathy, 14 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270303 | SCV002555321 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002328958 | SCV002628716 | likely benign | Inborn genetic diseases | 2017-07-18 | 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. |