ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.*1826G>C (rs7044157)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000319961 SCV000479981 benign Inclusion Body Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374717 SCV000479982 benign Sialuria 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284908 SCV000479983 benign GNE myopathy 2016-06-14 criteria provided, single submitter clinical testing

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