ClinVar Miner

Submissions for variant NM_021957.4(GYS2):c.1701_1704del (p.Thr568fs)

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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 RCV003990899 SCV004807964 likely pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency 2024-03-29 criteria provided, single submitter clinical testing

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