ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu) (rs80356780)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723829 SCV000226603 pathogenic not provided 2014-07-14 criteria provided, single submitter clinical testing
Counsyl RCV000009638 SCV000486325 likely pathogenic Carnitine palmitoyltransferase I deficiency 2016-05-09 criteria provided, single submitter clinical testing
OMIM RCV000009638 SCV000029856 pathogenic Carnitine palmitoyltransferase I deficiency 2001-05-01 no assertion criteria provided literature only
GeneReviews RCV000009638 SCV000086866 pathologic Carnitine palmitoyltransferase I deficiency 2013-03-07 no assertion criteria provided curation Converted during submission to Pathogenic.

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