ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.1086-17G>A

gnomAD frequency: 0.00111  dbSNP: rs200509841
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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 RCV002186241 SCV002486344 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505864 SCV002799908 likely benign Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2021-09-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002186241 SCV005304594 benign not provided criteria provided, single submitter not provided

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