ClinVar Miner

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

dbSNP: rs201984177
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000032134 SCV002441616 likely benign Propionic acidemia 2024-01-25 criteria provided, single submitter clinical testing
GeneReviews RCV000032134 SCV000055691 not provided Propionic acidemia no assertion provided literature only

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