ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.930C>T (p.Gly310=)

gnomAD frequency: 0.00003  dbSNP: rs371971257
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670417 SCV000795267 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2017-11-14 criteria provided, single submitter clinical testing
Invitae RCV001855541 SCV002317175 likely benign Carnitine palmitoyltransferase II deficiency 2024-01-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485552 SCV002793529 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 2021-11-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453305 SCV004179436 uncertain significance Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000670417 SCV004179437 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453304 SCV004179438 uncertain significance Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453303 SCV004179439 uncertain significance Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing

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