ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1531G>T (p.Gly511Cys)

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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 RCV003140431 SCV003807124 likely pathogenic Osteogenesis imperfecta, perinatal lethal 2022-05-13 criteria provided, single submitter clinical testing ACMG classification criteria: PS4 supporting, PM1 moderated, PM2 moderated, PM6 moderated, PP3 supporting

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