ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.242A>G (p.Tyr81Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Autoinflammatory diseases unit, CHU de Montpellier RCV004768476 SCV005382008 likely pathogenic Osteogenesis imperfecta, perinatal lethal 2024-10-03 no assertion criteria provided clinical testing

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