ClinVar Miner

Variants studied for Fumarase deficiency

Coded as:
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
44 35 222 28 8 2 323

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FH 40 35 219 28 8 2 316
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: 22
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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
Illumina Laboratory Services, Illumina 0 1 43 4 6 0 54
Labcorp Genetics (formerly Invitae), Labcorp 13 0 11 13 0 0 37
OMIM 8 0 0 0 0 0 8
3billion 1 2 1 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
Mendelics 0 0 0 1 1 0 2
GeneReviews 0 0 0 0 0 2 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
Genome-Nilou Lab 0 0 0 1 1 0 2
Fulgent Genetics, Fulgent Genetics 1 0 0 0 0 0 1
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
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 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

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