ClinVar Miner

Submissions for variant NM_006129.5(BMP1):c.584dup (p.Gln197fs)

dbSNP: rs1828459412
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University RCV002073406 SCV001960983 pathogenic Osteogenesis imperfecta type 13 criteria provided, single submitter clinical testing The compound heterozygous variants c.584dupG (p.Gln197Profs*10) and c.965G>A (p.Cys322Tyr) in the BMP1 were identified in a patient diagnosed as osteogenesis imperfecta. This variant is absent from database (gnomAD, 1000 Genomes Project Consortium, dbSNPs, Thai reference exome (T-Rex) variant database) and classified as pathogenic using ACMG Guidelines.

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