ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.2876G>T (p.Gly959Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV004515774 SCV005016489 likely pathogenic Osteogenesis imperfecta, perinatal lethal 2023-12-04 criteria provided, single submitter clinical testing

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