ClinVar Miner

Submissions for variant NM_181552.4(CUX1):c.190-2A>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 Human Genetics, University of Leipzig Medical Center RCV002468668 SCV002764608 pathogenic Global developmental delay with or without impaired intellectual development 2022-12-19 criteria provided, single submitter clinical testing Criteria applied: PVS1, PS2_Moderate, PM2_Supporting

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