ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.*30C>G

dbSNP: rs540975887
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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 RCV000273422 SCV000480083 likely benign GNE myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000330961 SCV000480084 likely benign Inclusion Body Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000387754 SCV000480085 likely benign Sialuria 2016-06-14 criteria provided, single submitter clinical testing

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