ClinVar Miner

Submissions for variant NM_004247.4(EFTUD2):c.351-2A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV003323275 SCV004028501 likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome 2023-05-17 criteria provided, single submitter clinical testing

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