ClinVar Miner

Submissions for variant NM_006796.3(AFG3L2):c.1586C>T (p.Ala529Val)

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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 RCV003990619 SCV004807446 likely pathogenic Glycogen storage disease type III 2024-03-26 criteria provided, single submitter clinical testing

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