ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.12A>G (p.Ala4=)

gnomAD frequency: 0.00002  dbSNP: rs1476876445
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001414260 SCV001616390 likely benign Propionic acidemia 2024-03-25 criteria provided, single submitter clinical testing

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