ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.563-8G>A

gnomAD frequency: 0.00001  dbSNP: rs763640926
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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 RCV001289384 SCV001477154 uncertain significance not provided 2020-06-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001393117 SCV001594772 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-01-22 criteria provided, single submitter clinical testing

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