ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.*692AAT[9]

dbSNP: rs113316798
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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 RCV000308617 SCV000480035 uncertain significance GNE myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000365821 SCV000480036 uncertain significance Inclusion Body Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000390090 SCV000480037 uncertain significance Sialuria 2016-06-14 criteria provided, single submitter clinical testing

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