ClinVar Miner

Variants studied for Mitochondrial complex 1 deficiency, nuclear type 19

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 total
8 12 16 0 1 33

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
FOXRED1 8 12 14 0 30
FOXRED1, LOC130007026 0 0 2 1 3

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance benign total
Fulgent Genetics, Fulgent Genetics 5 6 0 0 11
Revvity Omics, Revvity 1 0 6 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 4 0 5
OMIM 3 0 0 0 3
Baylor Genetics 0 0 3 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 0 3
MGZ Medical Genetics Center 1 1 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 2
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS) 1 1 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 1
New York Genome Center 1 0 0 0 1
Genome-Nilou Lab 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 0 0 1 0 1

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