ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr) (rs2229738)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755988 SCV000883678 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000055868 SCV000733095 benign Carnitine palmitoyltransferase I deficiency no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180224 SCV000232620 benign not specified 2014-12-24 criteria provided, single submitter clinical testing
GeneReviews RCV000055868 SCV000086871 pathologic Carnitine palmitoyltransferase I deficiency 2013-03-07 no assertion criteria provided curation Converted during submission to Pathogenic.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000055868 SCV000743873 benign Carnitine palmitoyltransferase I deficiency 2015-08-03 criteria provided, single submitter clinical testing

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