Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000503849 | SCV000597088 | likely benign | not specified | 2016-01-08 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000866190 | SCV001007252 | likely benign | GLUT1 deficiency syndrome 1, autosomal recessive | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001310846 | SCV001500807 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | SLC2A1: BP4, BP7 |
Gene |
RCV001310846 | SCV001778205 | likely benign | not provided | 2020-10-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002413380 | SCV002713231 | likely benign | Inborn genetic diseases | 2019-01-08 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Genome- |
RCV003446097 | SCV004173588 | likely benign | Epilepsy, idiopathic generalized, susceptibility to, 12 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446096 | SCV004173590 | likely benign | Dystonia 9 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446094 | SCV004173591 | likely benign | Encephalopathy due to GLUT1 deficiency | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446095 | SCV004173592 | likely benign | Childhood onset GLUT1 deficiency syndrome 2 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446098 | SCV004173593 | likely benign | Hereditary cryohydrocytosis with reduced stomatin | 2023-04-11 | criteria provided, single submitter | clinical testing |