ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.351dup (p.Gly118fs)

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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 and Applied Genomics, University Hospital Tübingen RCV002468665 SCV002764601 pathogenic Osteogenesis imperfecta type I 2022-12-19 criteria provided, single submitter clinical testing

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