ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.222T>C (p.Asp74=)

gnomAD frequency: 0.00001  dbSNP: rs1360477206
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001487042 SCV001691525 likely benign Carnitine palmitoyltransferase II deficiency 2023-08-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506562 SCV002795842 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 2022-05-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456231 SCV004179290 likely benign Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451753 SCV004179291 likely benign Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451755 SCV004179292 likely benign Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451754 SCV004179293 likely benign Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing

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