ClinVar Miner

Submissions for variant NM_001135254.2(PAX7):c.220C>T (p.Arg74Ter)

dbSNP: rs1176071790
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV000991413 SCV001142810 likely pathogenic Alveolar rhabdomyosarcoma; Myopathy, congenital, progressive, with scoliosis 2019-06-20 criteria provided, single submitter clinical testing
OMIM RCV000850256 SCV000992428 pathogenic Myopathy, congenital, progressive, with scoliosis 2023-03-10 no assertion criteria provided literature only
Section for Clinical Neurogenetics, University of Tübingen RCV000850256 SCV001156096 likely pathogenic Myopathy, congenital, progressive, with scoliosis 2019-08-01 no assertion criteria provided research

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