ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.3159G>A (p.Arg1053=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics laboratory, Necker Hospital RCV002472347 SCV002769673 likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form no assertion criteria provided clinical testing
Autoinflammatory diseases unit, CHU de Montpellier RCV002472347 SCV005382009 likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form 2024-10-03 no assertion criteria provided clinical testing

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