ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1057A>G (p.Lys353Glu)

dbSNP: rs1554660090
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668924 SCV000793602 uncertain significance GNE myopathy 2017-08-28 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV000668924 SCV005416755 likely pathogenic GNE myopathy criteria provided, single submitter clinical testing PM2_Supporting+PP3_Moderate+PM3+PP4

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