ClinVar Miner

Variants studied for mitochondrial complex III deficiency nuclear type 2

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
13 6 66 7 8 98

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 total
TTC19 11 5 57 6 6 83
LOC130060311, TTC19 1 1 7 0 1 10
LOC130060312, TTC19 0 0 1 1 0 2
NCOR1, TTC19 0 0 1 0 1 2
LOC129390841, TTC19 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 1 57 6 6 70
OMIM 6 0 0 0 0 6
Baylor Genetics 0 1 4 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 0 0 4
Revvity Omics, Revvity 1 1 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Mendelics 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 1

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