ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5449-2A>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002471248 SCV002769669 likely pathogenic Elevated circulating creatine kinase concentration 2022-12-16 criteria provided, single submitter clinical testing PVS1, PM2

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