ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2284+33C>G

gnomAD frequency: 0.39032  dbSNP: rs56680997
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001619989 SCV005272716 benign not provided criteria provided, single submitter not provided
GeneDx RCV001619989 SCV001846309 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579222 SCV001806675 benign Congenital myotonia, autosomal recessive form 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579221 SCV001806674 benign Congenital myotonia, autosomal dominant form 2021-07-22 criteria provided, single submitter clinical testing

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