ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.616+1del

dbSNP: rs1554663295
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668742 SCV000793392 likely pathogenic GNE myopathy 2017-08-15 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732769 SCV000860755 pathogenic not provided 2018-04-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000732769 SCV002024867 pathogenic not provided 2019-07-29 criteria provided, single submitter clinical testing

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