ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.1777G>T (p.Gly593Cys)

dbSNP: rs66527965
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795928 SCV005418021 likely 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 criteria provided, single submitter clinical testing PM2_Supporting+PP3+PS4_Supporting+PS2_Supporting+PP2+PP4
OMIM RCV000018856 SCV000039139 pathogenic Osteogenesis imperfecta, type III/IV 1991-11-01 no assertion criteria provided literature only

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