ClinVar Miner

Variants studied for Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Coded as:
Minimum submission review status: Collection method:
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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
31 81 79 24 29 225

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
GFM1 29 81 76 24 29 220
NARS2 1 0 1 0 0 2
MRPL44 1 0 0 0 0 1
MRPS22 0 0 1 0 0 1
VARS2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Baylor Genetics 14 69 4 0 0 87
Illumina Laboratory Services, Illumina 0 0 43 8 19 70
Natera, Inc. 6 7 18 12 12 55
Genome-Nilou Lab 0 1 3 2 13 19
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades 10 1 0 0 0 11
Fulgent Genetics, Fulgent Genetics 1 2 3 3 1 10
Revvity Omics, Revvity 2 3 3 1 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 2 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 3 0 0 6
OMIM 4 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 3 4
Mendelics 0 1 1 0 1 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 2
Kids Research, The Children's Hospital at Westmead 1 1 0 0 0 2
3billion 0 1 1 0 0 2
Pediatric Department, Xiangya Hospital, Central South University 1 1 0 0 0 2
Rare Diseases Genetics and Genomics, Islamia College Peshawar 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Pars Genome Lab 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 1

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