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
28 10 63 65 14 173

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 10 5 50 57 12 128
ABCB4 12 3 6 0 0 20
DCDC2, KAAG1 2 1 6 8 1 18
CLDN1, CLDN16 3 1 0 0 1 5
ABCB4, LOC129998757 0 0 1 0 0 1
CLDN1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 6 1 51 61 12 131
Fulgent Genetics, Fulgent Genetics 5 2 15 6 0 28
OMIM 14 0 0 0 0 14
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
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
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
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 1

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