ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1774_1775del (p.Leu592fs) (rs767004984)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409282 SCV000487506 likely pathogenic Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced 2016-02-12 criteria provided, single submitter clinical testing
Counsyl RCV000410414 SCV000487507 likely pathogenic Carnitine palmitoyltransferase II deficiency, infantile 2016-02-12 criteria provided, single submitter clinical testing
Counsyl RCV000411459 SCV000487508 likely pathogenic Carnitine palmitoyltransferase II deficiency, lethal neonatal 2016-02-12 criteria provided, single submitter clinical testing

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