ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1401+13A>T

gnomAD frequency: 0.00001  dbSNP: rs376582730
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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 RCV002084166 SCV002430250 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707771 SCV005226861 likely benign not provided criteria provided, single submitter not provided

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