ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.898C>T (p.Arg300Trp)

gnomAD frequency: 0.00002  dbSNP: rs368280521
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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 RCV001390396 SCV001592117 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2021-07-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001390396 SCV002816456 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2022-04-22 criteria provided, single submitter clinical testing

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