ClinVar Miner

Submissions for variant NM_004247.4(EFTUD2):c.1414-2A>G

dbSNP: rs1597797917
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV000856737 SCV000999284 pathogenic Mandibulofacial dysostosis-microcephaly syndrome criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV002279566 SCV002564481 likely pathogenic Neurodevelopmental disorder 2022-02-18 criteria provided, single submitter clinical testing

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