ClinVar Miner

Variants in gene ABCB11

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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 other total
70 36 282 193 51 1 550

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other total
not provided 57 22 206 159 26 1 433
Progressive familial intrahepatic cholestasis 2 13 7 91 15 26 0 146
not specified 0 0 2 42 31 0 70
Cholestasis, intrahepatic, of pregnancy 3 2 8 1 0 0 0 11
Benign recurrent intrahepatic cholestasis type 2 6 0 2 0 0 0 8
Familial intrahepatic cholestasis type 2 2 3 0 0 0 0 5
Benign recurrent intrahepatic cholestasis type 2; Progressive familial intrahepatic cholestasis 2 2 1 1 0 0 0 4
Progressive familial intrahepatic cholestasis 1 0 3 0 0 0 4
Inborn genetic diseases 1 0 0 0 0 0 1
Progressive familial intrahepatic cholestasis 3 1 0 0 0 0 0 1
Pruritus; Intrahepatic Cholestasis; Abnormal liver function tests during pregnancy 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other total
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 32 6 195 7 13 1 254
Invitae 37 14 4 154 26 0 235
Illumina Clinical Services Laboratory,Illumina 2 1 73 9 25 0 110
GeneDx 0 1 2 38 23 0 64
Natera, Inc. 1 1 19 8 14 0 43
PreventionGenetics, PreventionGenetics 0 0 0 1 20 0 21
CeGaT Praxis fuer Humangenetik Tuebingen 5 2 7 1 0 0 15
NIHR Bioresource Rare Diseases, University of Cambridge 2 8 1 0 0 0 11
OMIM 8 0 0 0 0 0 8
Baylor Genetics 5 1 0 0 0 0 6
Centogene AG - the Rare Disease Company 2 4 0 0 0 0 6
Fulgent Genetics,Fulgent Genetics 1 1 1 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 2 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 1 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 1 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 1 1 0 0 2
Mendelics 0 1 0 0 1 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 0 1
Ambry Genetics 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 0 0 0 1

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