ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.292-5C>T

gnomAD frequency: 0.00019  dbSNP: rs191666624
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719097 SCV000729438 likely benign not provided 2019-11-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000893425 SCV001037357 benign Pyruvate dehydrogenase E1-alpha deficiency 2025-01-14 criteria provided, single submitter clinical testing

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