ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.221-14_221-4del

dbSNP: rs515726132
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002512946 SCV003289830 likely benign not provided 2022-10-19 criteria provided, single submitter clinical testing
OMIM RCV000009603 SCV000029821 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 11 2009-09-01 no assertion criteria provided literature only
GeneReviews RCV000201804 SCV000256562 uncertain significance Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2015-09-09 no assertion criteria provided literature only

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