ClinVar Miner

Variants studied for fumaric aciduria

Included ClinVar conditions (2):
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
48 48 236 21 8 4 336

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FH 44 48 233 21 8 4 329
FH, LOC129932888 2 0 2 0 0 0 4
CHML, EXO1, FH, KMO, OPN3, WDR64 1 0 1 0 0 0 2
CHML, EXO1, FH, KMO, MAP1LC3C, OPN3, PLD5, WDR64 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Natera, Inc. 4 2 128 9 4 0 147
Baylor Genetics 23 26 80 0 0 0 129
Fulgent Genetics, Fulgent Genetics 7 14 31 5 0 0 57
Illumina Laboratory Services, Illumina 0 1 43 4 6 0 54
Labcorp Genetics (formerly Invitae), Labcorp 13 0 11 0 0 0 24
OMIM 8 0 0 0 0 0 8
3billion, Medical Genetics 1 2 1 1 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 0 3
Mendelics 0 0 0 1 1 0 2
GeneReviews 0 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 1 1 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 1 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 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.