ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1657G>A (p.Asp553Asn)

gnomAD frequency: 0.00001  dbSNP: rs28936376
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675130 SCV000800705 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2018-05-10 criteria provided, single submitter clinical testing
OMIM RCV000009513 SCV000029731 pathogenic Carnitine palmitoyl transferase II deficiency, myopathic form 1995-01-01 no assertion criteria provided literature only

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