Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000830038 | SCV000971771 | benign | not provided | 2018-06-14 | 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. |
Genome- |
RCV002245702 | SCV002513932 | benign | Developmental and epileptic encephalopathy, 28 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002245701 | SCV002513933 | benign | Autosomal recessive spinocerebellar ataxia 12 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV004594168 | SCV005087580 | benign | not specified | 2024-07-15 | criteria provided, single submitter | clinical testing | This variant is classified as Benign based on local population frequency. This variant was detected in 56% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 52. Only high quality variants are reported. |
Breakthrough Genomics, |
RCV000830038 | SCV005254580 | benign | not provided | criteria provided, single submitter | not provided |