ClinVar Miner

Submissions for variant NM_000098.2(CPT2):c.520G>A (p.Glu174Lys) (rs28936674)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000009516 SCV000790198 likely pathogenic Carnitine palmitoyltransferase II deficiency, infantile 2017-03-15 criteria provided, single submitter clinical testing
GeneReviews RCV000202437 SCV000153658 pathogenic Carnitine palmitoyltransferase II deficiency 2014-05-15 no assertion criteria provided literature only
OMIM RCV000009516 SCV000029734 pathogenic Carnitine palmitoyltransferase II deficiency, infantile 1996-07-01 no assertion criteria provided literature only

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