ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.15G>C (p.Leu5=)

dbSNP: rs1443908294
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002198695 SCV002485898 likely benign Carnitine palmitoyltransferase II deficiency 2021-03-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505873 SCV002811187 likely benign 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 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454033 SCV004178243 likely benign Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454030 SCV004178244 likely benign Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454032 SCV004178245 likely benign Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454031 SCV004178246 likely benign Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing

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