ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.1747-1G>C (rs879253803)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000236764 SCV000790934 likely pathogenic Propionyl-CoA carboxylase deficiency 2017-10-04 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital RCV000236764 SCV000256841 pathogenic Propionyl-CoA carboxylase deficiency 2013-01-01 criteria provided, single submitter research

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