ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2270G>A (p.Gly757Asp)

dbSNP: rs72658178
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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 RCV002277779 SCV002564782 likely pathogenic Osteogenesis imperfecta 2019-05-01 criteria provided, single submitter clinical testing

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