ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1714G>C (p.Val572Leu) (rs121908632)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000006404 SCV000485115 pathogenic GNE myopathy 2016-02-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724160 SCV000700730 pathogenic not provided 2016-11-15 criteria provided, single submitter clinical testing
GeneReviews RCV000006404 SCV000058061 pathologic GNE myopathy 2013-03-07 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000006404 SCV000026587 pathogenic GNE myopathy 2006-01-01 no assertion criteria provided literature only

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