ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2711G>A (p.Gly904Glu)

dbSNP: rs775246283
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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 Genomics, Sir Ganga Ram Hospital RCV001836673 SCV002097261 likely pathogenic Osteogenesis imperfecta, perinatal lethal 2022-02-06 criteria provided, single submitter clinical testing

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