ClinVar Miner

Submissions for variant NM_000925.4(PDHB):c.501G>T (p.Gly167=)

gnomAD frequency: 0.00009  dbSNP: rs759053641
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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 RCV000896374 SCV001040461 likely benign Pyruvate dehydrogenase E1-beta deficiency 2023-10-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275616 SCV001460896 uncertain significance Pyruvate dehydrogenase phosphatase deficiency 2020-03-10 no assertion criteria provided clinical testing

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