ClinVar Miner

Submissions for variant NM_003477.2(PDHX):c.78_162del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000002192 SCV000022350 pathogenic Pyruvate dehydrogenase E3-binding protein deficiency 1997-12-01 no assertion criteria provided literature only

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