ClinVar Miner

Variants studied for cholangitis

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 total
34 29 119 65 14 249

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DCDC2 11 6 88 57 12 167
ABCB4 15 19 15 0 0 44
DCDC2, KAAG1 2 3 15 8 1 29
CLDN1, CLDN16 4 1 0 0 1 6
CLDN1 2 0 0 0 0 2
ABCB4, LOC129998757 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 6 1 52 61 12 132
Fulgent Genetics, Fulgent Genetics 10 21 68 6 0 105
OMIM 16 0 0 0 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 4 0 0 7
Genome-Nilou Lab 0 0 0 0 5 5
Mendelics 4 0 0 0 0 4
Illumina Laboratory Services, Illumina 1 1 1 0 0 3
Centogene AG - the Rare Disease Company 0 1 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 2 0 0 0 0 2
3billion 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 2
Baylor Genetics 1 0 0 0 0 1
Revvity Omics, Revvity 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 1
Gregorio Maranon General University Hospital, Gregorio Maranon Health Research Institute 0 1 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 1

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