ClinVar Miner

Submissions for variant NM_000925.4(PDHB):c.615G>A (p.Met205Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV003110161 SCV003762161 uncertain significance Pyruvate dehydrogenase E1-beta deficiency 2023-01-31 criteria provided, single submitter clinical testing

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