ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.445G>T (p.Ala149Ser)

dbSNP: rs1563946658
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Diseases Diagnostic Center, Koc University Hospital RCV000786067 SCV000864399 likely pathogenic GNE myopathy 2018-12-18 no assertion criteria provided clinical testing

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