ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.1948G>C (p.Gly650Arg)

dbSNP: rs72651626
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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 RCV002277883 SCV002565140 likely pathogenic Osteogenesis imperfecta 2019-12-23 criteria provided, single submitter clinical testing

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