ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.103C>T (p.Leu35=)

gnomAD frequency: 0.00003  dbSNP: rs2929073
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002065887 SCV002355999 likely benign Carnitine palmitoyltransferase II deficiency 2021-11-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495522 SCV002796151 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 2021-12-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454950 SCV004179254 likely benign Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454947 SCV004179255 likely benign Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454949 SCV004179256 likely benign Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454948 SCV004179257 likely benign Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing

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