ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.-282C>T

gnomAD frequency: 0.00009  dbSNP: rs886046402
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000313432 SCV000358088 uncertain significance Carnitine palmitoyltransferase II deficiency 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487316 SCV002775161 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 2021-12-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445913 SCV004172348 uncertain significance Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445910 SCV004172349 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445912 SCV004172350 uncertain significance Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445911 SCV004172351 uncertain significance Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing

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