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
60 36 209 41 28 1 322

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 9 168 10 12 0 224
Cholestasis, intrahepatic, of pregnancy 3 13 19 48 5 13 0 94
Progressive familial intrahepatic cholestasis 3 9 2 46 6 13 0 74
not specified 0 0 4 32 23 0 52
Cholestasis, progressive familial intrahepatic 1 7 5 4 0 1 0 17
Low phospholipid associated cholelithiasis 7 2 2 0 0 0 10
Familial intrahepatic cholestasis type 3 2 0 0 0 0 0 2
Progressive familial intrahepatic cholestasis 3; Low phospholipid associated cholelithiasis; 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: 26
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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
Illumina Clinical Services Laboratory,Illumina 1 1 47 7 13 0 67
GeneDx 0 3 9 30 17 0 59
NIHR Bioresource Rare Diseases, University of Cambridge 3 19 0 0 0 0 22
Invitae 0 0 1 9 11 0 21
Mendelics 7 6 4 0 1 0 18
PreventionGenetics, PreventionGenetics 0 0 0 3 13 0 16
OMIM 13 0 0 0 0 0 13
Baylor Genetics 3 1 3 0 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 3 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 1 0 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Fulgent Genetics,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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
Gregorio Maranon General University Hospital,Gregorio Maranon Health Research Institute 1 1 0 0 0 0 2
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 2 0 0 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 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
Nilou-Genome Lab 0 0 0 0 1 0 1

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