ClinVar Miner

Variants studied for infantile liver failure

Included ClinVar conditions (7):
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
49 64 107 32 40 2 270

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TRMU 12 21 69 25 22 1 135
NBAS 28 33 20 4 14 1 93
LARS1 4 8 9 2 1 0 22
RINT1 5 0 6 0 1 0 12
EFCAB10, RINT1 0 0 2 0 2 0 4
LARS1, LOC129389388 0 0 0 1 0 0 1
LOC129933155, NBAS 0 1 0 0 0 0 1
MMUT 0 1 0 0 0 0 1
PTPRO 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 46 10 17 0 73
Natera, Inc. 3 3 15 13 16 0 50
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 12 27 0 0 0 0 39
Fulgent Genetics, Fulgent Genetics 2 7 10 8 0 0 27
OMIM 19 0 0 0 0 0 19
Baylor Genetics 2 2 15 0 0 0 19
Genome-Nilou Lab 0 0 0 0 19 0 19
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 2 4 0 0 0 8
Revvity Omics, Revvity 0 3 4 0 0 0 7
Mendelics 0 4 0 1 1 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 2 1 0 0 0 6
Counsyl 0 2 2 0 1 0 5
Undiagnosed Diseases Network, NIH 0 1 3 0 0 0 4
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 1 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 0 3
Laboratory of Medical Genetics, University of Torino 3 0 0 0 0 0 3
3billion 0 1 1 1 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 0 0 3
Brain and Mitochondrial Research, Murdoch Children's Research Insitute 2 1 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 1 1 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Laboratory of Jean-Laurent Casanova, The Rockefeller University 2 0 0 0 0 0 2
Kids Research, The Children's Hospital at Westmead 0 2 0 0 0 0 2
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 1 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Division of Biology and Genetics, University of Brescia 0 1 0 0 0 0 1
Department of Pediatrics, Asahikawa Medical University 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS) 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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