ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1065-16T>C

gnomAD frequency: 0.00833  dbSNP: rs113764654
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419501 SCV000528829 likely benign not specified 2017-07-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002059715 SCV002415069 benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002059715 SCV002802963 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2022-05-17 criteria provided, single submitter clinical testing

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