ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.169C>T (p.Gln57Ter) (rs1057516251)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412122 SCV000485359 likely pathogenic Glycogen storage disease, type II 2015-11-24 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000412122 SCV000894160 pathogenic Glycogen storage disease, type II 2018-10-31 criteria provided, single submitter clinical testing

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