ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter) (rs754386565)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410758 SCV000487639 likely pathogenic Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced 2016-06-21 criteria provided, single submitter clinical testing
Counsyl RCV000411774 SCV000487640 likely pathogenic Carnitine palmitoyltransferase II deficiency, infantile 2016-06-21 criteria provided, single submitter clinical testing
Counsyl RCV000409790 SCV000487641 likely pathogenic Carnitine palmitoyltransferase II deficiency, lethal neonatal 2016-06-21 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000762945 SCV000893368 likely pathogenic Carnitine palmitoyltransferase II deficiency, infantile; Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced; Carnitine palmitoyltransferase II deficiency, lethal neonatal; Encephalopathy, acute, infection-induced, 4, susceptibility to 2018-10-31 criteria provided, single submitter clinical testing

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