ClinVar Miner

Submissions for variant NM_006744.4(RBP4):c.358G>C (p.Asp120His)

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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 RCV003323309 SCV003804462 likely pathogenic Congenital ocular coloboma 2022-12-06 criteria provided, single submitter clinical testing PM1, PM2, PP2, PP3

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