ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.302T>C (p.Met101Thr)

gnomAD frequency: 0.00006  dbSNP: rs546781274
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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 RCV005034284 SCV005665115 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2024-05-07 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678789 SCV000804970 uncertain significance Seizure 2017-03-28 no assertion criteria provided clinical testing

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