Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000325105 | SCV000339447 | benign | not specified | 2016-02-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000325105 | SCV000519456 | benign | not specified | 2016-01-04 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001513764 | SCV001721439 | benign | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001730656 | SCV001980920 | benign | Developmental and epileptic encephalopathy, 14 | 2021-08-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001730657 | SCV001980921 | benign | Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2021-08-19 | criteria provided, single submitter | clinical testing |