ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2074G>T (p.Gly692Cys)

dbSNP: rs1907108266
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277886 SCV002565146 likely pathogenic Osteogenesis imperfecta 2019-04-25 criteria provided, single submitter clinical testing

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