ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.900-3_917dup (rs606231188)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000011624 SCV000031856 pathogenic Pyruvate dehydrogenase E1-alpha deficiency 1998-06-01 no assertion criteria provided literature only

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