ClinVar Miner

Submissions for variant NM_004247.4(EFTUD2):c.1904T>A (p.Leu635His)

dbSNP: rs2145455460
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV001843872 SCV002103064 uncertain significance Mandibulofacial dysostosis-microcephaly syndrome 2021-11-23 criteria provided, single submitter clinical testing PM2, PP2. PP3

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