ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.*2687del

dbSNP: rs113390675
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000331135 SCV000403027 uncertain significance Glycogen storage disease, type I 2016-06-14 criteria provided, single submitter clinical testing

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