ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.292-11C>T

gnomAD frequency: 0.00001  dbSNP: rs776535833
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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 RCV002116179 SCV002402747 benign Pyruvate dehydrogenase E1-alpha deficiency 2023-08-23 criteria provided, single submitter clinical testing

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