ClinVar Miner

Variants studied for inborn disorder of bile acid synthesis

Included ClinVar conditions (5):
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
175 128 434 497 54 3 1175

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
CYP27A1 155 121 358 482 24 3 1030
BAAT 0 0 54 11 22 0 87
TJP2 4 4 13 3 8 0 31
SLC10A1 4 2 6 1 0 0 11
​intergenic 6 0 0 0 0 0 6
WDR83, WDR83OS 5 0 0 0 0 0 5
EPHX1 0 0 3 0 0 0 3
CYP27A1, PRKAG3, WNT6 1 0 0 0 0 0 1
DOCK6 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 132 16 296 468 20 0 932
Illumina Laboratory Services, Illumina 3 3 96 18 25 0 145
Baylor Genetics 49 46 3 0 0 0 98
Natera, Inc. 28 1 36 22 6 0 93
Fulgent Genetics, Fulgent Genetics 25 27 24 4 1 0 81
GeneReviews 56 0 0 0 3 2 61
Counsyl 6 23 27 1 0 0 57
Myriad Genetics, Inc. 4 17 0 0 0 0 21
OMIM 17 0 2 0 0 0 19
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 12 7 0 0 0 0 19
Revvity Omics, Revvity 12 3 3 0 0 0 18
Genome-Nilou Lab 0 1 0 0 9 0 10
Mendelics 5 2 0 1 0 0 8
3billion, Medical Genetics 2 3 1 2 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 5 0 0 0 7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 5 0 0 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 4 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 2 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 4 0 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 1 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 4 0 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 3
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 3 0 0 0 0 0 3
Elsea Laboratory, Baylor College of Medicine 0 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 1
Clinical Genetics, Amsterdam Medical Centre 0 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 0 1 0 1
DASA 1 0 0 0 0 0 1
Kazan State Medical University, Kazan State Medical University 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1

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