ClinVar Miner

Submissions for variant NM_000925.4(PDHB):c.935-12T>G

gnomAD frequency: 0.00011  dbSNP: rs200752186
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001620118 SCV001842629 likely benign not provided 2019-07-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002539562 SCV003255178 likely benign Pyruvate dehydrogenase E1-beta deficiency 2024-01-16 criteria provided, single submitter clinical testing

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