ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2772del (p.Asn925fs)

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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, University of Goettingen RCV003324101 SCV004027865 likely pathogenic Glycogen storage disease, type II 2021-10-10 criteria provided, single submitter clinical testing

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