ClinVar Miner

Variants studied for obsolete Leigh syndrome with nephrotic syndrome

Included ClinVar conditions (4):
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
7 15 53 19 5 2 94

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COQ2 5 4 18 9 2 0 36
COQ2, LOC112997540 0 7 19 1 2 0 27
PDSS2 2 2 13 9 1 2 26
COQ8A 0 2 2 0 0 0 4
APTX 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 1 4 29 19 1 0 54
Revvity Omics, Revvity 0 2 9 0 0 0 11
Baylor Genetics 1 0 9 0 0 0 10
OMIM 7 0 0 0 0 0 7
SingHealth Duke-NUS Institute of Precision Medicine 0 2 5 0 0 0 7
Genome-Nilou Lab 0 0 0 0 4 0 4
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 1 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 1 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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