ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.20032C>T (p.Arg6678Cys) (rs200239095)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606932 SCV000730970 likely benign not specified 2017-08-18 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 RCV000310739 SCV000416872 uncertain significance Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000641438 SCV000763079 benign Nemaline myopathy 2 2017-09-22 criteria provided, single submitter clinical testing

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