ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2365-1G>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003141464 SCV003826779 likely pathogenic not provided 2021-11-29 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989820 SCV004806018 pathogenic Congenital myotonia, autosomal dominant form 2024-03-25 criteria provided, single submitter clinical testing

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