ClinVar Miner

Variants studied for carnitine-acylcarnitine translocase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
52 33 90 107 7 273

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLC25A20 50 33 90 107 7 271
AMT, ARIH2, ARIH2OS, C3orf62, CCDC71, CIMIP7, DAG1, DALRD3, GPX1, IHO1, IMPDH2, KLHDC8B, LAMB2, MIR191, NDUFAF3, NICN1, P4HTM, QARS1, QRICH1, RHOA, SLC25A20, TCTA, USP19, USP4, WDR6 1 0 0 0 0 1
ARIH2, ARIH2OS, CCDC71, DALRD3, IMPDH2, KLHDC8B, LAMB2, MIR191, NDUFAF3, P4HTM, QARS1, QRICH1, SLC25A20, USP19, WDR6 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 42 10 58 105 5 220
Illumina Laboratory Services, Illumina 1 0 31 2 2 36
Baylor Genetics 14 20 0 0 0 34
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 11 8 0 0 0 19
OMIM 9 0 0 0 0 9
Fulgent Genetics, Fulgent Genetics 2 1 2 0 0 5
Revvity Omics, Revvity 0 0 2 0 0 2
Centogene AG - the Rare Disease Company 0 1 1 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1

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.