ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1348A>T (p.Arg450Ter) (rs755395180)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169371 SCV000220749 likely pathogenic Carnitine palmitoyltransferase II deficiency, infantile 2014-09-29 criteria provided, single submitter literature only

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