ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.1503del (p.Phe501fs)

dbSNP: rs1553785139
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672368 SCV000797466 uncertain significance Propionic acidemia 2018-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000672368 SCV005656555 likely pathogenic Propionic acidemia 2024-02-22 criteria provided, single submitter clinical testing

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