ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1343G>A (p.Gly448Glu)

dbSNP: rs72658116
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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 RCV002244124 SCV002512419 likely pathogenic Osteogenesis imperfecta, perinatal lethal 2021-04-30 criteria provided, single submitter clinical testing ACMG classification criteria: PM1, PM2, PM5, PP3

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