ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.446del (p.Asn149fs) (rs1206838893)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University RCV001030038 SCV001190556 pathogenic Propionic acidemia 2019-05-10 criteria provided, single submitter clinical testing

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