ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.936C>G (p.Leu312=)

gnomAD frequency: 0.00016  dbSNP: rs41266267
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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 RCV000946193 SCV001092300 likely benign not provided 2024-10-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502901 SCV002806112 likely benign Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2021-10-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000946193 SCV004011511 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing CLCN2: BP4, BP7

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