ClinVar Miner

Variants studied for disorder of gluconeogenesis

Included ClinVar conditions (6):
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
142 131 443 1135 98 8 1845

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PC 73 106 235 902 43 2 1289
FBP1 45 17 64 151 22 1 277
CA5A 13 5 66 59 13 4 150
PCK1 6 2 65 11 18 0 96
LOC130006142, PC 0 1 2 11 0 0 14
NRL, PCK2 1 0 8 1 1 1 11
LOC130006147, PC 0 0 2 0 1 0 3
LRFN4, PC 2 0 0 0 0 0 2
BANP, CA5A, JPH3, KLHDC4, SLC7A5, ZNF469 1 0 0 0 0 0 1
CA5A, JPH3, KLHDC4, SLC7A5 0 0 1 0 0 0 1
FBP1, FBP2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 99 18 226 1108 72 0 1523
Illumina Laboratory Services, Illumina 0 0 177 21 32 0 230
Baylor Genetics 5 36 15 0 0 0 56
Myriad Genetics, Inc. 0 38 0 0 0 0 38
Revvity Omics, Revvity 4 2 18 0 0 0 24
Counsyl 1 6 15 1 0 0 23
OMIM 22 0 0 0 0 0 22
Fulgent Genetics, Fulgent Genetics 0 1 11 4 3 0 19
Genome-Nilou Lab 0 0 0 0 19 0 19
Mendelics 4 4 1 0 1 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 3 0 0 0 0 8
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 6 0 0 0 0 8
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 3 4 0 0 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 3 1 0 0 6
Department of Medical Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 6 0 0 0 0 0 6
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 6 0 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 2 3 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 3 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 1 0 0 0 0 5
3billion 2 1 2 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 2 2 0 0 0 5
Centogene AG - the Rare Disease Company 3 1 0 0 0 0 4
GeneReviews 0 0 0 0 0 4 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 2 0 0 0 0 4
Lifecell International Pvt. Ltd 0 4 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 1 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 3
Fatma Al Jasmi Lab, United Arab Emirates University 3 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
GenePathDx, GenePath diagnostics 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 1

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