ClinVar Miner

Variants in gene ABCB4

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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
49 11 179 37 23 1 266

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 34 8 164 0 1 0 204
not specified 0 0 3 32 23 0 52
Familial Intrahepatic Cholestasis 0 0 17 5 3 0 25
Progressive intrahepatic cholestasis 0 0 17 5 3 0 25
Progressive familial intrahepatic cholestasis 3 11 1 2 0 1 0 15
Cholecystitis 7 2 2 0 0 0 10
Cholestasis, intrahepatic, of pregnancy 3 8 0 1 0 0 0 8
Progressive familial intrahepatic cholestasis 3; Cholecystitis; Cholestasis, intrahepatic, of pregnancy 3 0 0 2 0 0 0 2
ABCB4-related disorders 0 0 0 0 0 1 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 34 5 162 5 13 0 219
GeneDx 0 3 9 28 17 0 57
Illumina Clinical Services Laboratory,Illumina 1 1 18 5 3 0 28
PreventionGenetics 0 0 0 3 13 0 16
OMIM 13 0 0 0 0 0 13
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 1 0 0 2
Fulgent Genetics 0 0 2 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 1 0 2
Gregorio Maranon General University Hospital,Gregorio Maranon Health Research Institute 1 1 0 0 0 0 2
Mendelics 0 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1

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