ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1605C>T (p.Ala535=)

gnomAD frequency: 0.00009  dbSNP: rs200676193
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518533 SCV000612765 likely benign not specified 2017-01-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001402763 SCV001604617 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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