ClinVar Miner

Submissions for variant NM_001202.6(BMP4):c.1118G>A (p.Cys373Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Department, University Hospital of Toulouse RCV002291345 SCV002583613 likely pathogenic Irido-corneo-trabecular dysgenesis 2022-10-15 criteria provided, single submitter clinical testing LP (PS2, PM2, PP3)

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