ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.24_25del (p.Ile9fs)

dbSNP: rs1648909681
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV001254058 SCV001429966 pathogenic Glycogen storage disease type III 2020-06-09 criteria provided, single submitter clinical testing

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