ClinVar Miner

Submissions for variant NM_000151.3(G6PC):c.229T>C (p.Trp77Arg) (rs104894566)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000012781 SCV000220994 likely pathogenic Glycogen storage disease type 1A 2014-12-29 criteria provided, single submitter literature only
OMIM RCV000012781 SCV000033021 pathogenic Glycogen storage disease type 1A 1996-05-01 no assertion criteria provided literature only

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