ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln)

gnomAD frequency: 0.00156  dbSNP: rs115961753
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878619 SCV001021553 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492929 SCV002801577 likely benign Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2021-09-25 criteria provided, single submitter clinical testing
GeneReviews RCV000201809 SCV000256568 not provided Leukoencephalopathy with mild cerebellar ataxia and white matter edema no assertion provided literature only
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678790 SCV000804971 uncertain significance Seizure 2017-08-04 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000878619 SCV001929479 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000878619 SCV001970869 likely benign not provided no assertion criteria provided clinical testing

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