ClinVar Miner

Submissions for variant NM_000925.4(PDHB):c.303+12T>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003514970 SCV004312368 likely benign Pyruvate dehydrogenase E1-beta deficiency 2023-05-30 criteria provided, single submitter clinical testing

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