Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001451528 | SCV001655158 | likely benign | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2021-12-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000473974 | SCV001824547 | likely benign | not provided | 2019-05-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270562 | SCV002555490 | likely benign | Developmental and epileptic encephalopathy, 14 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270563 | SCV002555491 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002446916 | SCV002732112 | benign | Inborn genetic diseases | 2020-09-29 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Clinical Molecular Genetics Laboratory, |
RCV000781974 | SCV000920429 | likely benign | Epilepsy | 2016-10-13 | no assertion criteria provided | clinical testing |