ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1083-2A>G

dbSNP: rs1570433472
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ege University Pediatric Genetics, Ege University RCV000790368 SCV000925605 pathogenic Glycogen storage disease IIIa 2019-05-16 criteria provided, single submitter clinical testing

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