ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.2143+8C>T

gnomAD frequency: 0.00004  dbSNP: rs752854427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000968945 SCV001116429 likely benign not provided 2025-01-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488057 SCV002795695 likely benign Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2022-01-18 criteria provided, single submitter clinical testing

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