ClinVar Miner

Variants studied for cholecystitis

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
12 3 7 0 0 21

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ABCB4 12 3 6 20
ABCB4, LOC129998757 0 0 1 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 6 0 0 6
Fulgent Genetics, Fulgent Genetics 1 0 4 5
Mendelics 4 0 0 4
Illumina Laboratory Services, Illumina 1 1 1 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 2
Centogene AG - the Rare Disease Company 0 0 1 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 1
Gregorio Maranon General University Hospital, Gregorio Maranon Health Research Institute 0 1 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 1

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