ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.38G>C (p.Cys13Ser) (rs1209266607)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000594728 SCV000700792 pathogenic not provided 2016-11-15 criteria provided, single submitter clinical testing
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea RCV000755013 SCV000882745 pathogenic GNE myopathy 2019-02-11 no assertion criteria provided research
Counsyl RCV000755013 SCV001132211 pathogenic GNE myopathy 2019-06-27 no assertion criteria provided clinical testing
GeneReviews RCV000755013 SCV001364089 pathogenic GNE myopathy 2020-04-07 no assertion criteria provided literature only

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