ClinVar Miner

Variants studied for acute liver failure

Included ClinVar conditions (5):
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 not provided total
24 41 70 25 22 1 168

Gene and significance breakdown #

Total genes and gene combinations: 8
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TRMU 12 21 69 25 22 1 135
NBAS 9 14 0 0 0 0 23
LARS1 1 3 0 0 0 0 4
RINT1 2 0 0 0 0 0 2
LOC129933155, NBAS 0 1 0 0 0 0 1
MILR1, POLG2 0 1 0 0 0 0 1
MMUT 0 1 0 0 0 0 1
MT-CO3 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 46 10 17 0 73
Natera, Inc. 3 3 15 13 16 0 50
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 12 27 0 0 0 0 39
Fulgent Genetics, Fulgent Genetics 2 5 3 3 0 0 13
OMIM 6 0 0 0 0 0 6
Revvity Omics, Revvity 0 2 3 0 0 0 5
Counsyl 0 2 2 0 1 0 5
Baylor Genetics 0 0 3 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 3
Elsea Laboratory, Baylor College of Medicine 1 1 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
Working Group: Pediatric metabolic liver diseases, University Hospital Heidelberg 2 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS) 0 1 0 0 0 0 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.