ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.1930C>T (p.Arg644Cys)

gnomAD frequency: 0.00119  dbSNP: rs148545588
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001496216 SCV001700910 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001496216 SCV001845670 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492928 SCV002803048 likely benign Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2021-07-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001496216 SCV004699446 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing CLCN2: BS2
GeneReviews RCV000201838 SCV000256567 not provided Leukoencephalopathy with mild cerebellar ataxia and white matter edema no assertion provided literature only
PreventionGenetics, part of Exact Sciences RCV004553100 SCV004743413 benign CLCN2-related disorder 2019-05-13 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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