ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.1646del (p.Pro549fs)

dbSNP: rs1907351704
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Department, Polish Mother's Memorial Hospital Research Institute RCV001260267 SCV001244819 pathogenic Osteogenesis imperfecta 2020-04-06 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV005021436 SCV005649555 pathogenic Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Osteoporosis; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 2024-02-07 criteria provided, single submitter clinical testing

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