ClinVar Miner

Submissions for variant NM_021957.4(GYS2):c.*567del

dbSNP: rs886049152
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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 RCV000389323 SCV000377405 uncertain significance Glycogen storage disorder due to hepatic glycogen synthase deficiency 2016-06-14 criteria provided, single submitter clinical testing

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