Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000433158 | SCV000525361 | likely benign | not specified | 2016-03-14 | 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 |
RCV002062722 | SCV002405019 | benign | GLUT1 deficiency syndrome 1, autosomal recessive | 2023-04-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446017 | SCV004173560 | benign | Epilepsy, idiopathic generalized, susceptibility to, 12 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446016 | SCV004173561 | benign | Dystonia 9 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446014 | SCV004173562 | benign | Encephalopathy due to GLUT1 deficiency | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446015 | SCV004173563 | benign | Childhood onset GLUT1 deficiency syndrome 2 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446018 | SCV004173564 | benign | Hereditary cryohydrocytosis with reduced stomatin | 2023-04-11 | criteria provided, single submitter | clinical testing |