ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1046dup (p.Asn349fs)

dbSNP: rs1057517515
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409430 SCV000487684 likely pathogenic Carnitine palmitoyl transferase II deficiency, myopathic form 2016-07-29 criteria provided, single submitter clinical testing
Counsyl RCV000410982 SCV000487685 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 2016-07-29 criteria provided, single submitter clinical testing
Counsyl RCV000412442 SCV000487686 likely pathogenic Carnitine palmitoyl transferase II deficiency, neonatal form 2016-07-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV003475987 SCV004211091 likely pathogenic Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-11-24 criteria provided, single submitter clinical testing

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