ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.1009-17_1009-14dup

dbSNP: rs1569193999
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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 RCV002119535 SCV002394581 benign Pyruvate dehydrogenase E1-alpha deficiency 2024-11-13 criteria provided, single submitter clinical testing

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