ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.1091-8_1091-3del (rs1249235758)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987338 SCV001136610 pathogenic Propionic acidemia 2019-05-28 criteria provided, single submitter clinical testing
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV000987338 SCV001482014 likely pathogenic Propionic acidemia 2021-02-17 criteria provided, single submitter research PS3, PM2, PP3

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