ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln) (rs115961753)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878619 SCV001021553 likely benign not provided 2018-05-15 criteria provided, single submitter clinical testing
GeneReviews RCV000201809 SCV000256568 uncertain significance Leukoencephalopathy with ataxia 2015-09-09 no assertion criteria provided literature only
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678790 SCV000804971 uncertain significance Seizures 2017-08-04 no assertion criteria provided clinical testing

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