ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2701G>T (p.Gly901Cys)

dbSNP: rs72659306
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001596918 SCV001832443 likely pathogenic not provided 2019-11-30 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002243318 SCV002512463 likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form 2021-08-31 criteria provided, single submitter clinical testing ACMG classification criteria: PM1 strong, PM2 moderate, PP3 supporting

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