ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1459G>A (p.Glu487Lys) (rs778743524)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671040 SCV000795979 uncertain significance Carnitine palmitoyltransferase II deficiency, infantile 2017-11-26 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001253708 SCV001429557 likely pathogenic Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced 2017-06-19 criteria provided, single submitter clinical testing

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