ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.*1012CA[14]

dbSNP: rs10527967
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000384461 SCV000480005 uncertain significance Inclusion Body Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000292501 SCV000480006 uncertain significance Sialuria 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000349811 SCV000480007 uncertain significance GNE myopathy 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004696143 SCV005195411 uncertain significance not provided criteria provided, single submitter not provided

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