Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000244538 | SCV000312698 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000244538 | SCV000519659 | benign | not specified | 2016-01-06 | 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. |
Athena Diagnostics | RCV000714212 | SCV000844902 | benign | not provided | 2017-04-20 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001510044 | SCV001716976 | benign | Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002244633 | SCV002515102 | benign | Developmental and epileptic encephalopathy, 28 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002244632 | SCV002515103 | benign | Autosomal recessive spinocerebellar ataxia 12 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV000244538 | SCV005087660 | 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 46% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 43. Only high quality variants are reported. |
Breakthrough Genomics, |
RCV000714212 | SCV005248833 | benign | not provided | criteria provided, single submitter | not provided |