ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.4291del (p.Thr1431fs)

dbSNP: rs2144530119
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of California San Francisco RCV001376027 SCV001573038 pathogenic Osteogenesis imperfecta, perinatal lethal 2020-07-23 criteria provided, single submitter clinical testing
Genomic Medicine Lab, University of California San Francisco RCV001376027 SCV002576345 pathogenic Osteogenesis imperfecta, perinatal lethal criteria provided, single submitter clinical testing

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