ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.739A>T (p.Arg247Trp)

dbSNP: rs1360046080
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666150 SCV000790394 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2017-03-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499151 SCV002790872 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4 2022-02-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456122 SCV004179397 uncertain significance Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000666150 SCV004179399 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451642 SCV004179400 uncertain significance Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451641 SCV004179401 uncertain significance Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing

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