ClinVar Miner

Submissions for variant NM_004247.4(EFTUD2):c.2335C>T (p.Leu779Phe) (rs1597789186)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000851192 SCV000993441 likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome 2019-08-13 criteria provided, single submitter research ACMG codes: PS2, PM2, PP3

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