ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.1284+2dup

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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 RCV001293407 SCV001482004 pathogenic Propionic acidemia 2021-02-17 criteria provided, single submitter research PS3, PM2, PM3, PP3, PP4

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