ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1079A>G (p.Glu360Gly)

dbSNP: rs80356787
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
OMIM RCV000009629 SCV000029847 pathogenic Carnitine palmitoyl transferase 1A deficiency 2002-01-01 no assertion criteria provided literature only
GeneReviews RCV000009629 SCV000086850 not provided Carnitine palmitoyl transferase 1A deficiency no assertion provided literature only

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