ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.741C>T (p.Ala247=)

gnomAD frequency: 0.00001  dbSNP: rs191115697
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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 RCV000882610 SCV001025858 likely benign Propionic acidemia 2024-08-28 criteria provided, single submitter clinical testing

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