ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.12C>T (p.Asp4=) (rs117178114)

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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 RCV000723646 SCV000113021 uncertain significance not provided 2014-02-20 criteria provided, single submitter clinical testing
GeneDx RCV000194069 SCV000531984 likely benign not specified 2016-09-30 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 RCV000194069 SCV000248151 benign not specified 2017-05-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311759 SCV000417061 uncertain significance Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000547821 SCV000640545 benign Nemaline myopathy 2 2017-12-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000194069 SCV000307203 benign not specified criteria provided, single submitter clinical testing

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