ClinVar Miner

Submissions for variant NM_181552.4(CUX1):c.3164dup (p.Ala1056fs)

dbSNP: rs1563446668
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Total submissions: 3
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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 RCV000782012 SCV000920474 pathogenic not provided 2018-01-22 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000757898 SCV001335391 likely pathogenic Global developmental delay with or without impaired intellectual development 2022-12-19 criteria provided, single submitter clinical testing Criteria applied: PVS1, PM2_Supporting
OMIM RCV000757898 SCV000886408 pathogenic Global developmental delay with or without impaired intellectual development 2019-02-19 no assertion criteria provided literature only

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