ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.135C>T (p.Tyr45=)

gnomAD frequency: 0.00001  dbSNP: rs1645327989
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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 RCV002169742 SCV002331453 likely benign Carnitine palmitoyltransferase II deficiency 2023-11-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498125 SCV002809634 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 2022-04-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453987 SCV004179269 likely benign Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453984 SCV004179270 likely benign Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453986 SCV004179271 likely benign Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453985 SCV004179272 likely benign Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing

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