ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.1133G>A (p.Arg378His) (rs137853250)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000011620 SCV000746768 pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2017-12-18 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001267918 SCV001446428 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
OMIM RCV000011620 SCV000031852 pathogenic Pyruvate dehydrogenase E1-alpha deficiency 1991-01-01 no assertion criteria provided literature only

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