ClinVar Miner

Submissions for variant NM_000925.4(PDHB):c.417T>C (p.Pro139=)

gnomAD frequency: 0.00001  dbSNP: rs762644804
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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 RCV000895417 SCV001039457 likely benign Pyruvate dehydrogenase E1-beta deficiency 2023-11-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275617 SCV001460897 likely benign Pyruvate dehydrogenase complex deficiency 2020-04-22 no assertion criteria provided clinical testing

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