ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1776C>T (p.Asp592=)

gnomAD frequency: 0.00038  dbSNP: rs148132102
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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 RCV000875186 SCV001017476 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-01-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145220 SCV003830720 likely benign not provided 2023-11-10 criteria provided, single submitter clinical testing

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