ClinVar Miner

Submissions for variant NM_021957.4(GYS2):c.1230-14dup

dbSNP: rs752714629
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001062226 SCV001227008 benign Glycogen storage disorder due to hepatic glycogen synthase deficiency 2021-02-19 criteria provided, single submitter clinical testing

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