ClinVar Miner

Submissions for variant NM_022356.4(P3H1):c.570_571del (p.Gly191fs)

dbSNP: rs1553143741
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV000625576 SCV001438875 pathogenic Osteogenesis imperfecta type 8 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625576 SCV000746074 pathogenic Osteogenesis imperfecta type 8 2017-09-18 no assertion criteria provided clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000625576 SCV001469190 likely pathogenic Osteogenesis imperfecta type 8 2020-09-10 no assertion criteria provided clinical testing

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