ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2710G>C (p.Gly904Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003140449 SCV003807162 likely pathogenic Osteogenesis imperfecta, perinatal lethal 2023-02-03 criteria provided, single submitter clinical testing ACMG classification criteria: PS4 supporting, PM1 moderated, PM2 moderated, PP3 supporting

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