ClinVar Miner

Submissions for variant NM_004247.4(EFTUD2):c.764dup (p.Cys256fs) (rs794729651)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics,Children's Hospital of Philadelphia RCV000185561 SCV000238449 pathogenic Mandibulofacial dysostosis-microcephaly syndrome 2015-05-18 no assertion criteria provided research This variant (c.764dup; p.Cys256Valfs*6) has not been previously reported in the literature or in population databases. It represents a frameshift with would result in a product ~1/4 of the wild type product, consistent with previously published pathogenic mutations.

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