ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln)

gnomAD frequency: 0.00108  dbSNP: rs71318369
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490413 SCV000267256 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 11 2016-03-18 criteria provided, single submitter reference population
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514822 SCV000610985 uncertain significance not provided 2017-07-26 criteria provided, single submitter clinical testing
Fulgent Genetics, 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
GeneReviews 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, Erasmus MC, Erasmus Medical Center RCV000514822 SCV001970269 uncertain significance not provided no assertion criteria provided clinical testing

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