ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1645+14G>T

dbSNP: rs2100274977
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002108847 SCV002439348 likely benign Carnitine palmitoyltransferase II deficiency 2023-05-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500171 SCV002808841 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 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003447047 SCV004172362 likely benign Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003447044 SCV004172363 likely benign Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003447046 SCV004172364 likely benign Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003447045 SCV004172365 likely benign Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing

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