ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.600+1G>T

dbSNP: rs879253802
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Total submissions: 2
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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 RCV000235932 SCV000256840 pathogenic Propionic acidemia 2013-01-01 criteria provided, single submitter research
Counsyl RCV000235932 SCV000793775 pathogenic Propionic acidemia 2017-08-30 criteria provided, single submitter clinical testing

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