ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.1339C>T (p.Leu447Phe)

dbSNP: rs1576360934
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Metabolic Disorders, Peking University First Hospital RCV000790506 SCV000929834 likely pathogenic Propionic acidemia 2019-05-08 no assertion criteria provided clinical testing

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