Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000603596 | SCV000726468 | likely benign | not specified | 2018-01-09 | 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. |
Labcorp Genetics |
RCV003117407 | SCV003786676 | likely benign | GLUT1 deficiency syndrome 1, autosomal recessive | 2022-06-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446248 | SCV004172959 | likely benign | Epilepsy, idiopathic generalized, susceptibility to, 12 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446247 | SCV004172960 | likely benign | Dystonia 9 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446245 | SCV004172961 | likely benign | Encephalopathy due to GLUT1 deficiency | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446246 | SCV004172962 | likely benign | Childhood onset GLUT1 deficiency syndrome 2 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446249 | SCV004172963 | likely benign | Hereditary cryohydrocytosis with reduced stomatin | 2023-04-11 | criteria provided, single submitter | clinical testing |