ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1315G>T (p.Gly439Cys)

dbSNP: rs1584320553
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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 Human Genetics, Cologne University RCV000984473 SCV000999913 pathogenic Osteogenesis imperfecta type I no assertion criteria provided clinical testing

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