ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln) (rs71318369)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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 with grand mal seizures on awakening; Hyperaldosteronism, familial, type II; Leukoencephalopathy with ataxia 2018-10-31 criteria provided, single submitter clinical testing
GeneReviews RCV000201836 SCV000256564 uncertain significance Leukoencephalopathy with ataxia 2015-09-09 no assertion criteria provided literature only
OMIM RCV000009605 SCV000029823 risk factor Epilepsy, juvenile myoclonic 8 2009-03-01 no assertion criteria provided literature only
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490413 SCV000267256 uncertain significance Epilepsy with grand mal seizures on awakening 2016-03-18 criteria provided, single submitter reference population

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