ClinVar Miner

Submissions for variant NM_001135254.2(PAX7):c.86-1G>A

dbSNP: rs1570098248
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000850255 SCV001430018 pathogenic Myopathy, congenital, progressive, with scoliosis 2020-04-28 criteria provided, single submitter clinical testing
OMIM RCV000850255 SCV000992427 pathogenic Myopathy, congenital, progressive, with scoliosis 2024-07-16 no assertion criteria provided literature only

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