ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.2734del (p.Arg912fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital of Duesseldorf RCV004527485 SCV005038698 likely pathogenic Brittle cornea syndrome 1 criteria provided, single submitter not provided

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