ClinVar Miner

Submissions for variant NM_001003694.2(BRPF1):c.2844dup (p.Lys949fs)

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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003883391 SCV004697807 pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis 2024-02-29 criteria provided, single submitter clinical testing

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