ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.875G>A (p.Gly292Asp)

dbSNP: rs1131692167
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Department, Polish Mother's Memorial Hospital Research Institute RCV000991263 SCV000994678 likely pathogenic Osteogenesis imperfecta 2019-07-11 criteria provided, single submitter research
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV003315360 SCV004015016 pathogenic Osteogenesis imperfecta with normal sclerae, dominant form criteria provided, single submitter clinical testing

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