ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.633C>T (p.Ala211=)

gnomAD frequency: 0.00056  dbSNP: rs138246784
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704346 SCV000528510 likely benign not provided 2019-05-07 criteria provided, single submitter clinical testing
Invitae RCV000556421 SCV000636339 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-01-04 criteria provided, single submitter clinical testing

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