ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.925C>T (p.Arg309Ter)

gnomAD frequency: 0.00001  dbSNP: rs863225250
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005031769 SCV005665089 likely pathogenic Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2024-04-02 criteria provided, single submitter clinical testing
GeneReviews RCV000201803 SCV000256582 not provided Leukoencephalopathy with mild cerebellar ataxia and white matter edema no assertion provided literature only

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