ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.406G>A (p.Ala136Thr)

gnomAD frequency: 0.00012  dbSNP: rs138727886
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513883 SCV000610445 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082627 SCV001069588 benign Pyruvate dehydrogenase E1-alpha deficiency 2024-11-03 criteria provided, single submitter clinical testing

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