ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.3927+2dup

dbSNP: rs2075481193
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290667 SCV002580693 uncertain significance Facioscapulohumeral muscular dystrophy 2 2022-02-16 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Wuerzburg RCV001260522 SCV001437543 likely pathogenic Shoulder girdle muscle weakness no assertion criteria provided clinical testing

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