ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.433+72C>G

gnomAD frequency: 0.43455  dbSNP: rs7800971
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000838793 SCV000980671 benign not provided 2018-06-19 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.
Genome-Nilou Lab RCV001579209 SCV001806662 benign Congenital myotonia, autosomal dominant form 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579210 SCV001806663 benign Congenital myotonia, autosomal recessive form 2021-07-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000838793 SCV005270763 benign not provided criteria provided, single submitter not provided

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