Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000249793 | SCV000312711 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000249793 | SCV000519735 | benign | not specified | 2016-01-05 | 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 | RCV001511255 | SCV001718465 | benign | Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002244653 | SCV002513919 | benign | Developmental and epileptic encephalopathy, 28 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002244652 | SCV002513920 | benign | Autosomal recessive spinocerebellar ataxia 12 | 2021-12-05 | criteria provided, single submitter | clinical testing |