ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1310C>T (p.Ala437Val)

gnomAD frequency: 0.00015  dbSNP: rs563423438
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001786835 SCV002028792 uncertain significance not provided 2021-11-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002074089 SCV002412921 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-01-29 criteria provided, single submitter clinical testing

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