ClinVar Miner

Submissions for variant NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter) (rs1135402725)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Klinikum rechts der Isar RCV000149582 SCV000680328 pathogenic Pyruvate dehydrogenase E3-binding protein deficiency 2017-12-09 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091950 SCV001248252 pathogenic not provided 2020-04-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001091950 SCV001447178 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
OMIM RCV000149582 SCV000196558 pathogenic Pyruvate dehydrogenase E3-binding protein deficiency 2014-09-01 no assertion criteria provided literature only

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