Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703806 | SCV000523793 | likely benign | not provided | 2021-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000650663 | SCV000772510 | benign | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002318430 | SCV000851638 | likely benign | Inborn genetic diseases | 2017-03-30 | 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. |
Eurofins Ntd Llc |
RCV000439653 | SCV000859380 | likely benign | not specified | 2018-02-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270270 | SCV002553724 | benign | Developmental and epileptic encephalopathy, 14 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270271 | SCV002553726 | benign | Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2022-03-15 | criteria provided, single submitter | clinical testing |