ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.122del (p.Gly41fs)

dbSNP: rs1802291231
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266023 SCV001444195 pathogenic Inborn genetic diseases 2018-05-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005040110 SCV005674200 likely pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-01-31 criteria provided, single submitter clinical testing

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