ClinVar Miner

Submissions for variant NM_002615.7(SERPINF1):c.1216C>T (p.Leu406Phe)

dbSNP: rs1597357758
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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 RCV000844852 SCV000986659 likely pathogenic Osteogenesis imperfecta type 6 criteria provided, single submitter clinical testing

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