ClinVar Miner

Variants studied for benign recurrent intrahepatic cholestasis type 2

Included ClinVar conditions (3):
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
81 75 120 28 36 316

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ABCB11 75 70 112 27 36 298
ABCB11, LOC126806400 6 5 7 1 0 17
ATP8B1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 1 1 70 9 25 106
Baylor Genetics 51 48 0 0 0 98
Natera, Inc. 13 5 22 20 16 76
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH 20 5 0 0 0 25
Fulgent Genetics, Fulgent Genetics 5 4 10 2 1 22
Genome-Nilou Lab 1 0 2 0 14 17
3billion 5 1 5 0 0 11
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 3 7 0 0 11
OMIM 8 0 0 0 0 8
Mendelics 1 3 0 0 1 5
Genomics And Bioinformatics Analysis Resource, Columbia University 3 2 0 0 0 5
Molecular Diagnostics Laboratory, Seoul National University Hospital 2 2 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 2 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 1 0 0 0 3
MGZ Medical Genetics Center 1 0 1 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 1 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
UGC Analisis Clinicos, Hospital Universitario Reina Sofia de Cordoba 0 1 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 1

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