ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.1060A>C (p.Thr354Pro)

dbSNP: rs1157736285
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of California San Francisco RCV001007886 SCV001167591 likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2018-06-28 criteria provided, single submitter clinical testing

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