ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.464-11T>G

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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 RCV002308506 SCV002600285 pathogenic Thrombocytopenia 1 2022-11-15 criteria provided, single submitter clinical testing RNAseq data demonstrate aberrant splicing

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