ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys) (rs80356791)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000009633 SCV000800495 uncertain significance Carnitine palmitoyltransferase I deficiency 2017-02-10 criteria provided, single submitter clinical testing
GeneReviews RCV000009633 SCV000086858 pathologic Carnitine palmitoyltransferase I deficiency 2013-03-07 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000009633 SCV000029851 pathogenic Carnitine palmitoyltransferase I deficiency 2003-12-12 no assertion criteria provided literature only

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