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
41 9 230 51 34 1 334

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other total
not provided 32 8 199 3 0 1 242
not specified 0 0 2 42 31 0 70
Familial Intrahepatic Cholestasis 1 0 30 9 9 0 49
Progressive familial intrahepatic cholestasis 2 13 1 3 0 0 0 17
Benign recurrent intrahepatic cholestasis 2 11 1 1 0 0 0 13
Benign recurrent intrahepatic cholestasis 2; Progressive familial intrahepatic cholestasis 2 2 1 1 0 0 0 4
Inborn genetic diseases 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: 16
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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
GeneDx 0 1 2 36 23 0 62
Illumina Clinical Services Laboratory,Illumina 2 1 31 9 9 0 52
PreventionGenetics 0 0 0 1 20 0 21
OMIM 8 0 0 0 0 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 2 1 0 0 4
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
Genetic Services Laboratory, University of Chicago 0 0 1 1 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 1 0 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 0 1
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1

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