ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser) (rs28936673)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000009514 SCV000791042 likely pathogenic Carnitine palmitoyltransferase II deficiency, infantile 2017-04-25 criteria provided, single submitter clinical testing
Mendelics RCV000009514 SCV001135292 pathogenic Carnitine palmitoyltransferase II deficiency, infantile 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000009514 SCV000029732 pathogenic Carnitine palmitoyltransferase II deficiency, infantile 1999-07-01 no assertion criteria provided literature only
GeneReviews RCV000202449 SCV000153672 pathogenic Carnitine palmitoyltransferase II deficiency 2017-03-16 no assertion criteria provided literature only
OMIM RCV000415611 SCV000493925 pathogenic Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced 1999-07-01 no assertion criteria provided literature only

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