ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.54_72dup (p.Leu25fs)

dbSNP: rs1057517510
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409552 SCV000487661 likely pathogenic Carnitine palmitoyl transferase II deficiency, myopathic form 2016-07-18 criteria provided, single submitter clinical testing
Counsyl RCV000411079 SCV000487662 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 2016-07-18 criteria provided, single submitter clinical testing
Counsyl RCV000412110 SCV000487663 likely pathogenic Carnitine palmitoyl transferase II deficiency, neonatal form 2016-07-18 criteria provided, single submitter clinical testing

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