ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.3788del (p.Lys1263fs)

dbSNP: rs1114167401
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Sciences, Uppsala University RCV000490673 SCV000574624 pathogenic Osteogenesis imperfecta type I no assertion criteria provided clinical testing

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