ClinVar Miner

Variants studied for Infantile liver failure syndrome 2

Coded as:
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Gene type:
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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
21 16 14 1 14 61

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NBAS 21 16 14 1 14 61

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genome-Nilou Lab 0 0 0 0 14 14
Baylor Genetics 2 2 5 0 0 9
OMIM 7 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 2 1 0 0 6
Mendelics 0 4 0 1 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 2 0 0 4
Laboratory of Medical Genetics, University of Torino 3 0 0 0 0 3
Brain and Mitochondrial Research, Murdoch Children's Research Insitute 2 1 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 0 1 1 0 0 2
Laboratory of Jean-Laurent Casanova, The Rockefeller University 2 0 0 0 0 2
Kids Research, The Children's Hospital at Westmead 0 2 0 0 0 2
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 1 0 0 0 2
3billion, Medical Genetics 0 1 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 2
Institute of Human Genetics, Cologne University 0 1 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 1 0 0 0 0 1
Reutter Lab, Institute of Human Genetics, University Hospital Bonn 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1

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