Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome- |
RCV001538068 | SCV001755082 | benign | Neuronal ceroid lipofuscinosis 2 | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001538069 | SCV001755083 | benign | Autosomal recessive spinocerebellar ataxia 7 | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000675456 | SCV001940238 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV004594089 | SCV005087825 | 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 100% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 93. Only high quality variants are reported. |
Breakthrough Genomics, |
RCV000675456 | SCV005322109 | benign | not provided | criteria provided, single submitter | not provided | ||
Mayo Clinic Laboratories, |
RCV000675456 | SCV000801141 | benign | not provided | 2015-10-22 | no assertion criteria provided | clinical testing |