ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2541C>T (p.His847=)

gnomAD frequency: 0.00027  dbSNP: rs146653916
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704457 SCV000530425 likely benign not provided 2020-09-04 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000436110 SCV000612783 likely benign not specified 2017-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000870877 SCV001012439 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000870877 SCV002808233 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2022-01-28 criteria provided, single submitter clinical testing

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