ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1545_1548del (p.Phe516fs) (rs1057517477)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409947 SCV000487524 likely pathogenic Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced 2016-02-22 criteria provided, single submitter clinical testing
Counsyl RCV000411439 SCV000487525 likely pathogenic Carnitine palmitoyltransferase II deficiency, infantile 2016-02-22 criteria provided, single submitter clinical testing
Counsyl RCV000409024 SCV000487526 likely pathogenic Carnitine palmitoyltransferase II deficiency, lethal neonatal 2016-02-22 criteria provided, single submitter clinical testing

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