ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.726C>T (p.Ala242=)

gnomAD frequency: 0.00011  dbSNP: rs768569603
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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 RCV002102099 SCV002328065 benign not provided 2024-03-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507854 SCV002808158 likely benign Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2022-01-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002102099 SCV005304596 benign not provided criteria provided, single submitter not provided

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