ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2793del (p.Gly932fs)

dbSNP: rs1906866028
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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, University of Leipzig Medical Center RCV001253438 SCV001429144 pathogenic Osteogenesis imperfecta type I 2017-07-06 criteria provided, single submitter clinical testing

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