ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.601G>A (p.Val201Ile)

gnomAD frequency: 0.00001  dbSNP: rs769612798
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000819331 SCV000959985 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2021-08-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145199 SCV003830782 uncertain significance not provided 2020-02-24 criteria provided, single submitter clinical testing

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