ClinVar Miner

Submissions for variant NM_000925.4(PDHB):c.826A>T (p.Met276Leu)

gnomAD frequency: 0.00001  dbSNP: rs372743787
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003485701 SCV004235743 uncertain significance Pyruvate dehydrogenase E1-beta deficiency 2023-11-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280186 SCV001467346 uncertain significance Pyruvate dehydrogenase complex deficiency 2020-08-24 no assertion criteria provided clinical testing

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