ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.759+9A>G

gnomAD frequency: 0.00002  dbSNP: rs2643456
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518906 SCV001727683 benign Pyruvate dehydrogenase E1-alpha deficiency 2023-09-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836436 SCV002076929 likely benign Pyruvate dehydrogenase complex deficiency 2020-01-06 no assertion criteria provided clinical testing

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