ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1323_1326del (p.Thr442fs)

dbSNP: rs1557718075
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NeuroMeGen, Hospital Clinico Santiago de Compostela RCV000754722 SCV000882609 likely pathogenic Carnitine palmitoyl transferase II deficiency, myopathic form 2018-10-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV003472272 SCV004211071 likely pathogenic Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-06-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005029406 SCV005649082 likely pathogenic 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 2024-04-01 criteria provided, single submitter clinical testing

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