ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1482T>C (p.Phe494=)

dbSNP: rs745690349
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000605836 SCV000721456 likely benign not specified 2017-07-28 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 RCV003767556 SCV004609788 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2023-12-06 criteria provided, single submitter clinical testing

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