ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.*2196dup

dbSNP: rs199874473
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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 RCV000307292 SCV000479972 benign Sialuria 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000366662 SCV000479973 benign GNE myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000399312 SCV000479974 benign Inclusion Body Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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