Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000429744 | SCV000526958 | likely benign | not specified | 2017-04-12 | 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. |
Labcorp Genetics |
RCV002062776 | SCV002408950 | benign | Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002244908 | SCV002513892 | benign | Developmental and epileptic encephalopathy, 28 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002244907 | SCV002513893 | benign | Autosomal recessive spinocerebellar ataxia 12 | 2021-12-05 | criteria provided, single submitter | clinical testing |