Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001720199 | SCV000524723 | likely benign | not provided | 2019-04-09 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000864617 | SCV001005440 | likely benign | GLUT1 deficiency syndrome 1, autosomal recessive | 2023-02-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446008 | SCV004172908 | likely benign | Epilepsy, idiopathic generalized, susceptibility to, 12 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446007 | SCV004172909 | likely benign | Dystonia 9 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446005 | SCV004172910 | likely benign | Encephalopathy due to GLUT1 deficiency | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446006 | SCV004172911 | likely benign | Childhood onset GLUT1 deficiency syndrome 2 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446009 | SCV004172912 | likely benign | Hereditary cryohydrocytosis with reduced stomatin | 2023-04-11 | criteria provided, single submitter | clinical testing |