ClinVar Miner

Submissions for variant NM_004247.4(EFTUD2):c.1775_1779del (p.Val592fs)

dbSNP: rs1135401812
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris RCV000496140 SCV000586780 pathogenic Mandibulofacial dysostosis-microcephaly syndrome 2017-01-06 criteria provided, single submitter clinical testing Intellectual disability, mild; postnatal microcephaly; 2-3 syndactyly; dysmorphism

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