ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1401+17T>C

gnomAD frequency: 0.14458  dbSNP: rs7794560
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000320814 SCV000343274 benign not specified 2016-06-28 criteria provided, single submitter clinical testing
GeneDx RCV000320814 SCV000519356 benign not specified 2016-01-28 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 RCV002059254 SCV002407869 benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712237 SCV005272700 benign not provided criteria provided, single submitter not provided

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