ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.672C>T (p.Ser224=)

gnomAD frequency: 0.00001  dbSNP: rs755629585
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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 RCV000878570 SCV001021495 likely benign not provided 2023-10-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501356 SCV002812403 likely benign Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2021-09-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004549998 SCV004718111 likely benign CLCN2-related disorder 2019-06-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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