ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.2040G>A (p.Ala680=) (rs369982920)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital RCV000236921 SCV000256847 pathogenic Propionic acidemia 2012-01-01 criteria provided, single submitter research
Counsyl RCV000236921 SCV000800685 uncertain significance Propionic acidemia 2018-03-27 criteria provided, single submitter clinical testing
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV000236921 SCV001482008 pathogenic Propionic acidemia 2021-02-17 criteria provided, single submitter research PS3, PM2, PM3_supportive, PP3, PP4
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV000236921 SCV001519662 pathogenic Propionic acidemia 2021-03-16 criteria provided, single submitter clinical testing

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