ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.862G>A (p.Val288Ile)

dbSNP: rs201984177
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000032134 SCV002441616 likely benign Propionic acidemia 2025-01-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710446 SCV005257817 likely benign not provided criteria provided, single submitter not provided
GeneReviews RCV000032134 SCV000055691 not provided Propionic acidemia no assertion provided literature only

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