ClinVar Miner

Submissions for variant NM_004247.4(EFTUD2):c.1332del (p.Ala445fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001255734 SCV001432307 likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome no assertion criteria provided clinical testing

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