ClinVar Miner

Submissions for variant NM_181552.4(CUX1):c.1576del (p.Ser526fs)

dbSNP: rs2131983329
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001374994 SCV001572282 likely pathogenic Neurodevelopmental disorder 2020-11-30 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV002468633 SCV002764620 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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