ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.2398C>T (p.Arg800Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005035206 SCV005665010 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2024-02-13 criteria provided, single submitter clinical testing

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