Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002152879 | SCV002417704 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002260412 | SCV002539335 | benign | Intellectual developmental disorder 60 with seizures | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003978765 | SCV004795845 | benign | AP2M1-related disorder | 2019-10-30 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Unidad de Genómica Garrahan, |
RCV004594622 | SCV005087598 | 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 54% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 50. Only high quality variants are reported. |
Breakthrough Genomics, |
RCV002152879 | SCV005302615 | benign | not provided | criteria provided, single submitter | not provided |