ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.651C>T (p.Val217=) (rs144109732)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000441602 SCV000612793 benign not specified 2017-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000441602 SCV000532927 likely benign not specified 2018-02-05 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.
Illumina Clinical Services Laboratory,Illumina RCV000289867 SCV000467108 likely benign Myotonia congenita 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000531036 SCV000636335 benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2017-04-26 criteria provided, single submitter clinical testing

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