ClinVar Miner

Variants studied for Fanconi-Bickel syndrome

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
36 10 102 67 28 233

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLC2A2 36 10 101 67 28 232
ACTRT3, CLDN11, ECT2, EIF5A2, FNDC3B, GHSR, GPR160, LRRC31, LRRC34, LRRIQ4, MECOM, MYNN, NCEH1, PHC3, PLD1, PRKCI, RPL22L1, SAMD7, SEC62, SKIL, SLC2A2, SLC7A14, SPATA16, TERC, TMEM212, TNFSF10, TNIK 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 17 1 60 62 17 157
Illumina Laboratory Services, Illumina 1 0 46 6 21 74
OMIM 13 0 0 0 0 13
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 4 2 0 0 0 6
Revvity Omics, Revvity 1 1 2 0 0 4
3billion 3 1 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 2
Institute of Human Genetics, Cologne University 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Mendelics 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Lifecell International Pvt. Ltd 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1

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