ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.930G>A (p.Thr310=)

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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 RCV003801949 SCV004606270 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-06-03 criteria provided, single submitter clinical testing

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