Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000243557 | SCV000305545 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000243557 | SCV000331407 | benign | not specified | 2016-05-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000243557 | SCV000519360 | 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. |
Genome- |
RCV001701808 | SCV001933706 | benign | Developmental and epileptic encephalopathy, 43 | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002057403 | SCV002453764 | benign | Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV000243557 | SCV005087622 | 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 51% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 47. Only high quality variants are reported. |
Breakthrough Genomics, |
RCV004715785 | SCV005297412 | benign | not provided | criteria provided, single submitter | not provided |