ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1021_1024delinsTTG (p.Asn341fs)

dbSNP: rs1553169720
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673392 SCV000798590 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 2018-03-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV004568553 SCV005058536 likely pathogenic Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-12-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005019157 SCV005653818 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 2024-06-23 criteria provided, single submitter clinical testing

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