ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.434-4G>A

gnomAD frequency: 0.00008  dbSNP: rs368048336
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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 RCV000871425 SCV001013086 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001561597 SCV001784225 likely benign not provided 2020-06-05 criteria provided, single submitter clinical testing

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