ClinVar Miner

Submissions for variant NM_006129.5(BMP1):c.2234-20C>T

gnomAD frequency: 0.00555  dbSNP: rs142089697
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514838 SCV000610613 likely benign not provided 2017-08-16 criteria provided, single submitter clinical testing
GeneDx RCV000610419 SCV000729109 benign not specified 2017-11-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000514838 SCV002342028 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003647780 SCV004564036 likely benign Osteogenesis imperfecta type 13 2023-02-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000514838 SCV005222836 likely benign not provided criteria provided, single submitter not provided

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