ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.679T>C (p.Tyr227His)

dbSNP: rs2147180839
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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, University of Leipzig Medical Center RCV001706839 SCV001934364 likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2020-12-08 criteria provided, single submitter clinical testing

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