ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1559A>T (p.Asn520Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003990733 SCV004807641 pathogenic Glycogen storage disease, type II 2024-03-29 criteria provided, single submitter clinical testing

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