ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.1330dup (p.Tyr444fs)

dbSNP: rs1595236063
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000790493 SCV002802314 likely pathogenic Propionic acidemia 2022-04-11 criteria provided, single submitter clinical testing
Laboratory of Metabolic Disorders, Peking University First Hospital RCV000790493 SCV000929821 pathogenic Propionic acidemia 2019-05-08 no assertion criteria provided clinical testing

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