ClinVar Miner

Variants in gene GFM1

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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
111 135 195 495 80 898

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 99 43 99 472 75 761
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 29 108 73 24 29 242
Inborn genetic diseases 0 0 43 2 0 45
not specified 0 0 11 15 20 44
GFM1-related disorder 1 3 2 18 2 26
Combined oxidative phosphorylation deficiency 0 2 1 2 0 5
See cases 2 1 0 0 0 3
Developmental regression; Relative macrocephaly; Severe muscular hypotonia 0 0 1 0 0 1
Leigh syndrome 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 97 34 63 432 38 664
GeneDx 9 10 30 47 54 150
Baylor Genetics 14 83 4 0 0 101
Illumina Laboratory Services, Illumina 0 0 40 10 19 69
Natera, Inc. 6 7 18 12 12 55
Ambry Genetics 0 0 43 2 0 45
Fulgent Genetics, Fulgent Genetics 6 28 3 3 1 41
Breakthrough Genomics, Breakthrough Genomics 0 0 1 12 26 39
PreventionGenetics, part of Exact Sciences 1 3 2 18 2 26
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 4 11 0 1 20
Genome-Nilou Lab 0 1 3 2 13 19
CeGaT Center for Human Genetics Tuebingen 1 0 3 8 2 14
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 3 4 13
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades 10 1 0 0 0 11
Revvity Omics, Revvity 2 3 3 1 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 5 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 2 3 6
OMIM 4 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 2 0 3
Mendelics 0 1 1 0 1 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 3 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 3
3billion 1 1 1 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 1 2
Center for Personalized Medicine, Children's Hospital Los Angeles 2 0 0 0 0 2
Kids Research, The Children's Hospital at Westmead 1 1 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 1
Pars Genome Lab 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1

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