ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.*702dup

dbSNP: rs886063921
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 RCV000319759 SCV000480044 uncertain significance Inclusion Body Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000376701 SCV000480045 uncertain significance GNE myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000284493 SCV000480046 uncertain significance Sialuria 2016-06-14 criteria provided, single submitter clinical testing

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