ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3030_3031del (p.Pro1011fs)

dbSNP: rs2148460005
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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 Wuerzburg RCV001787299 SCV002029184 likely pathogenic Elevated circulating creatine kinase concentration no assertion criteria provided clinical testing

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