Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Soonchunhyang University Bucheon Hospital, |
RCV000490413 | SCV000267256 | uncertain significance | Epilepsy, idiopathic generalized, susceptibility to, 11 | 2016-03-18 | criteria provided, single submitter | reference population | |
Center for Pediatric Genomic Medicine, |
RCV000514822 | SCV000610985 | uncertain significance | not provided | 2017-07-26 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765717 | SCV000897079 | uncertain significance | Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000201836 | SCV001136653 | uncertain significance | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000201836 | SCV001528192 | uncertain significance | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | 2018-04-11 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV000514822 | SCV002375143 | likely benign | not provided | 2023-12-14 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000009605 | SCV000029823 | risk factor | Epilepsy, juvenile myoclonic 8 | 2009-03-01 | no assertion criteria provided | literature only | |
Gene |
RCV000201836 | SCV000256564 | not provided | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | no assertion provided | literature only | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000514822 | SCV001970269 | uncertain significance | not provided | no assertion criteria provided | clinical testing |