ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.231del (p.Phe77fs)

dbSNP: rs2115865220
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV001836669 SCV002097257 pathogenic Osteogenesis imperfecta, perinatal lethal 2022-02-06 criteria provided, single submitter clinical testing

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