ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.1643+1_1643+2dup

dbSNP: rs1555425626
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669318 SCV000794060 uncertain significance Propionic acidemia 2017-09-07 criteria provided, single submitter clinical testing
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV000669318 SCV001482006 likely pathogenic Propionic acidemia 2021-02-17 criteria provided, single submitter research PS3, PM2, PP3

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