ClinVar Miner

Submissions for variant NM_021939.4(FKBP10):c.134T>A (p.Val45Asp)

dbSNP: rs1374482728
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Molecular Genetics Department, National Research Center RCV000844863 SCV000986671 likely pathogenic Osteogenesis imperfecta type 11 criteria provided, single submitter clinical testing

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