Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000347903 | SCV000357745 | benign | Dystonic disorder | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000396103 | SCV000357746 | benign | GLUT1 deficiency syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001653459 | SCV001870049 | benign | not provided | 2018-06-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003445908 | SCV004174032 | benign | Epilepsy, idiopathic generalized, susceptibility to, 12 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003445907 | SCV004174033 | benign | Dystonia 9 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003445905 | SCV004174034 | benign | Encephalopathy due to GLUT1 deficiency | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003445906 | SCV004174035 | benign | Childhood onset GLUT1 deficiency syndrome 2 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003445909 | SCV004174036 | benign | Hereditary cryohydrocytosis with reduced stomatin | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001653459 | SCV005288388 | benign | not provided | criteria provided, single submitter | not provided |