ClinVar Miner

Submissions for variant NM_004006.3:c.(1602+1_1603-1)_(6438+1_6439-1)del

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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 RCV001823016 SCV002072520 pathogenic Becker muscular dystrophy 2022-01-06 criteria provided, single submitter clinical testing This variant was identified as hemizygous._x000D_ Criteria applied: PVS1_STR, PS4, PM2_SUP

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