ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.*2410G>C

dbSNP: rs886063917
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000273502 SCV000479960 uncertain significance Inclusion Body Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000333290 SCV000479961 uncertain significance GNE myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000387832 SCV000479962 uncertain significance Sialuria 2016-06-14 criteria provided, single submitter clinical testing

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