ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter) (rs80356774)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000009630 SCV000797175 likely pathogenic Carnitine palmitoyltransferase I deficiency 2018-01-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790812 SCV000230181 pathogenic not provided 2013-09-10 criteria provided, single submitter clinical testing
GeneReviews RCV000009630 SCV000086868 pathologic Carnitine palmitoyltransferase I deficiency 2013-03-07 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000009630 SCV000029848 pathogenic Carnitine palmitoyltransferase I deficiency 2002-08-01 no assertion criteria provided literature only

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