ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.1742G>A (p.Gly581Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795444 SCV005418604 likely pathogenic Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III criteria provided, single submitter clinical testing PM2_Supporting+PP3_Strong+PS2_Supporting+PM1

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