ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.4391del (p.Pro1464fs)

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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 Leipzig Medical Center RCV003228771 SCV003925615 likely pathogenic Duchenne muscular dystrophy 2023-04-26 criteria provided, single submitter clinical testing This variant was identified as hemizygous._x000D_ Criteria applied: PVS1, PM2_SUP

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