ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.217C>A (p.Arg73=)

gnomAD frequency: 0.00007  dbSNP: rs761538559
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521809 SCV001731217 benign Pyruvate dehydrogenase E1-alpha deficiency 2024-01-06 criteria provided, single submitter clinical testing

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