ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.759+26GGCCAA[2]

dbSNP: rs11278403
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001511821 SCV001719125 benign Pyruvate dehydrogenase E1-alpha deficiency 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001673077 SCV001887135 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826358 SCV002076931 benign Pyruvate dehydrogenase complex deficiency 2019-08-29 no assertion criteria provided clinical testing

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