ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.737G>A (p.Arg246Gln) (rs121908629)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000202425 SCV000485514 likely pathogenic GNE myopathy 2015-12-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725734 SCV000701108 pathogenic not provided 2017-01-26 criteria provided, single submitter clinical testing
OMIM RCV000202425 SCV000026584 pathogenic GNE myopathy 2001-09-01 no assertion criteria provided literature only
Sema4, Sema4 RCV000202425 SCV000196517 pathogenic GNE myopathy 2014-11-01 no assertion criteria provided clinical testing 4 patients from two non-Jewish Persian families were homozygous for this variant

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