ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1352G>A (p.Gly451Asp)

dbSNP: rs2115902583
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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 Medical Genetics, Medical University of Vienna RCV001644993 SCV001519058 pathogenic Osteogenesis imperfecta, perinatal lethal 2021-03-10 no assertion criteria provided clinical testing

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