ClinVar Miner

Submissions for variant NM_000925.4(PDHB):c.1002T>C (p.Tyr334=)

gnomAD frequency: 0.00002  dbSNP: rs755616546
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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 RCV001431086 SCV001633837 likely benign Pyruvate dehydrogenase E1-beta deficiency 2022-05-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280182 SCV001467342 uncertain significance Pyruvate dehydrogenase complex deficiency 2020-10-15 no assertion criteria provided clinical testing

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