ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2416GAGCAG[3] (p.Gln809_Leu810insGluGln)

dbSNP: rs1803359070
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV003482657 SCV004229539 likely pathogenic not provided 2022-12-21 criteria provided, single submitter clinical testing The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with autosomal recessive myotonia congenita. This variant segregates with autosomal recessive myotonia congenita in at least one family.

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