ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.600C>T (p.Ile200=) (rs7047950)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000177230 SCV000306732 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177230 SCV000345221 benign not specified 2016-08-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273466 SCV000480106 benign Sialuria 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328485 SCV000480107 benign GNE myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383169 SCV000480108 benign Inclusion Body Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000177230 SCV000525734 benign not specified 2016-05-24 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.
Invitae RCV000549598 SCV000632653 benign GNE myopathy; Sialuria 2018-01-04 criteria provided, single submitter clinical testing

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