ClinVar Miner

Submissions for variant NM_000089.3(COL1A2):c.596G>A (p.Gly199Asp) (rs1554395833)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623858 SCV000741453 likely pathogenic Inborn genetic diseases 2016-04-04 criteria provided, single submitter clinical testing
Genomics England Pilot Project,Genomics England RCV001542468 SCV001760201 pathogenic Osteogenesis imperfecta, recessive perinatal lethal no assertion criteria provided clinical testing

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