ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.4481+2T>G

dbSNP: rs1553193530
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670169 SCV000794994 likely pathogenic Glycogen storage disease type III 2017-10-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV000670169 SCV004193983 likely pathogenic Glycogen storage disease type III 2022-04-12 criteria provided, single submitter clinical testing

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