ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1614C>A (p.Tyr538Ter)

dbSNP: rs1057517517
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411274 SCV000487691 likely pathogenic Carnitine palmitoyl transferase II deficiency, myopathic form 2016-08-09 criteria provided, single submitter clinical testing
Counsyl RCV000409314 SCV000487692 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 2016-08-09 criteria provided, single submitter clinical testing
Counsyl RCV000410441 SCV000487693 likely pathogenic Carnitine palmitoyl transferase II deficiency, neonatal form 2016-08-09 criteria provided, single submitter clinical testing

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