ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.2144G>A (p.Gly715Glu)

gnomAD frequency: 0.00001  dbSNP: rs137852681
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000009604 SCV000029822 uncertain significance Epilepsy, juvenile absence 2 2009-09-01 no assertion criteria provided literature only
GeneReviews RCV000201807 SCV000256571 not provided Leukoencephalopathy with mild cerebellar ataxia and white matter edema no assertion provided literature only

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