ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.203G>A (p.Arg68His)

gnomAD frequency: 0.00541  dbSNP: rs61729156
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514484 SCV000610741 likely benign not provided 2017-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000514484 SCV002342485 benign not provided 2024-11-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000514484 SCV005263013 likely benign not provided criteria provided, single submitter not provided
GeneReviews RCV000201802 SCV000256559 not provided Leukoencephalopathy with mild cerebellar ataxia and white matter edema no assertion provided literature only
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729454 SCV001980537 benign not specified no assertion criteria provided clinical testing

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