ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2343+1G>A

dbSNP: rs1114167378
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002475958 SCV002782561 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 2021-09-20 criteria provided, single submitter clinical testing
Department of Medical Sciences, Uppsala University RCV000490722 SCV000574574 pathogenic Osteogenesis imperfecta type I no assertion criteria provided clinical testing

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