ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.511C>T (p.Leu171=)

gnomAD frequency: 0.02118  dbSNP: rs2229292
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178037 SCV000230023 benign not specified 2014-09-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000385074 SCV000358098 benign Carnitine palmitoyltransferase II deficiency 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000385074 SCV000632612 benign Carnitine palmitoyltransferase II deficiency 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000178037 SCV001475802 benign not specified 2019-09-24 criteria provided, single submitter clinical testing
GeneDx RCV001706139 SCV001867716 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001706139 SCV002049010 benign not provided 2023-10-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000178037 SCV003922504 benign not specified 2023-03-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454458 SCV004179343 benign Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454455 SCV004179344 benign Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454457 SCV004179345 benign Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454456 SCV004179346 benign Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000385074 SCV001461217 benign Carnitine palmitoyltransferase II deficiency 2020-09-16 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.