ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1737del (p.Ala578_Tyr579insTer)

dbSNP: rs515726178
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000202525 SCV000153671 not provided Carnitine palmitoyltransferase II deficiency no assertion provided literature only

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