ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1509C>T (p.Arg503=)

dbSNP: rs1572385867
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002066479 SCV002341137 likely benign Carnitine palmitoyltransferase II deficiency 2022-12-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505490 SCV002805407 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 2021-07-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456171 SCV004179567 likely benign Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454980 SCV004179568 likely benign Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454982 SCV004179569 likely benign Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454981 SCV004179570 likely benign Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing

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