ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.7310-1G>A

dbSNP: rs1556880354
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Total submissions: 4
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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 RCV000583728 SCV002769645 pathogenic Duchenne muscular dystrophy 2022-12-16 criteria provided, single submitter clinical testing PVS1, PM2, PP5
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000583728 SCV000692214 pathogenic Duchenne muscular dystrophy 2014-04-11 no assertion criteria provided clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000581374 SCV000692215 pathogenic Becker muscular dystrophy 2014-04-11 no assertion criteria provided clinical testing
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) RCV000583728 SCV003927828 pathogenic Duchenne muscular dystrophy 2023-04-01 no assertion criteria provided clinical testing

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