ClinVar Miner

Submissions for variant NM_001128227.3(GNE):c.52-9070C>T

dbSNP: rs886063928
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000369781 SCV000480119 uncertain significance GNE myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000394484 SCV000480120 uncertain significance Inclusion Body Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311947 SCV000480121 uncertain significance Sialuria 2016-06-14 criteria provided, single submitter clinical testing

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