ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.5905T>C (p.Tyr1969His) (rs34532796)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000192397 SCV000529245 benign not specified 2017-10-06 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.
Genetic Services Laboratory, University of Chicago RCV000192397 SCV000248161 uncertain significance not specified 2014-09-04 criteria provided, single submitter clinical testing
Invitae RCV000545533 SCV000640828 benign Nemaline myopathy 2 2018-01-23 criteria provided, single submitter clinical testing
PreventionGenetics RCV000192397 SCV000307373 benign not specified criteria provided, single submitter clinical testing

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