ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.1200+1del

dbSNP: rs2144576696
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics England Pilot Project, Genomics England RCV001542692 SCV001760406 likely pathogenic Osteogenesis imperfecta, perinatal lethal no assertion criteria provided clinical testing

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