ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.468T>C (p.Thr156=)

gnomAD frequency: 0.00001  dbSNP: rs138938770
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001471619 SCV001675732 likely benign Carnitine palmitoyltransferase II deficiency 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501629 SCV002808236 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 2022-02-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451747 SCV004179334 likely benign Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451744 SCV004179335 likely benign Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451746 SCV004179336 likely benign Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451745 SCV004179337 likely benign Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing

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