ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.*1012CA[15]

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 RCV000387789 SCV000480008 uncertain significance Sialuria 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000295744 SCV000480009 uncertain significance Inclusion Body Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000334326 SCV000480010 uncertain significance GNE myopathy 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004696144 SCV005195414 uncertain significance not provided criteria provided, single submitter not provided

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