ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.2155G>A (p.Gly719Ser) (rs72651645)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000584774 SCV000692547 pathogenic Dentinogenesis imperfecta; Recurrent fractures 2016-03-15 criteria provided, single submitter clinical testing
Department of Medical Sciences,Uppsala University RCV000490715 SCV000574602 pathogenic Osteogenesis imperfecta type III no assertion criteria provided clinical testing

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