ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.614G>A (p.Gly205Asp)

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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 RCV003482490 SCV004229054 likely pathogenic Osteogenesis imperfecta, perinatal lethal 2023-12-06 criteria provided, single submitter clinical testing

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