ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.418+8G>A

gnomAD frequency: 0.00002  dbSNP: rs779583146
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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 RCV001511416 SCV001718659 benign Pyruvate dehydrogenase E1-alpha deficiency 2024-12-04 criteria provided, single submitter clinical testing

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