ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.1399G>A (p.Gly467Arg)

dbSNP: rs2144573313
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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 RCV002225061 SCV002503601 likely pathogenic Osteogenesis imperfecta, perinatal lethal 2022-04-11 criteria provided, single submitter clinical testing

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