ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.572G>T (p.Gly191Val)

dbSNP: rs67828806
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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 Human Genetics, Cologne University RCV001089659 SCV001193455 likely pathogenic Osteogenesis imperfecta type I no assertion criteria provided clinical testing

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