ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1207G>C (p.Gly403Arg)

dbSNP: rs2115898280
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249375 SCV002518738 pathogenic Osteogenesis imperfecta, perinatal lethal 2022-05-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277099 SCV002564763 pathogenic Osteogenesis imperfecta 2021-12-01 criteria provided, single submitter clinical testing

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