ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.352= (p.Gly118=)

gnomAD frequency: 0.01651  dbSNP: rs10282312
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517094 SCV000612789 benign not specified 2017-07-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000524844 SCV000636329 benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000517094 SCV000729934 benign not specified 2016-02-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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