ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.9865G>A (p.Gly3289Ser) (rs75639119)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081147 SCV000113055 benign not specified 2015-02-09 criteria provided, single submitter clinical testing
GeneDx RCV000081147 SCV000719356 benign not specified 2017-06-22 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 RCV000081147 SCV000248162 benign not specified 2016-04-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382335 SCV000416948 uncertain significance Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000553330 SCV000640906 benign Nemaline myopathy 2 2017-12-20 criteria provided, single submitter clinical testing
PreventionGenetics RCV000081147 SCV000307409 benign not specified criteria provided, single submitter clinical testing

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