ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.943G>A (p.Asp315Asn) (rs137853256)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268860 SCV001448067 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
OMIM RCV000011631 SCV000031863 pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2017-08-15 no assertion criteria provided literature only

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