ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp)

gnomAD frequency: 0.00015  dbSNP: rs185031797
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000638251 SCV000759737 benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-01-31 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714895 SCV000845645 uncertain significance Congenital myotonia, autosomal dominant form 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714896 SCV000845646 uncertain significance Congenital myotonia, autosomal recessive form 2018-08-07 criteria provided, single submitter clinical testing
Athena Diagnostics RCV002473080 SCV002771071 uncertain significance not provided 2021-08-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002473080 SCV003830701 uncertain significance not provided 2022-12-15 criteria provided, single submitter clinical testing

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