ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.519C>T (p.Leu173=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003787995 SCV004604845 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2023-05-22 criteria provided, single submitter clinical testing

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