ClinVar Miner

Variants in gene ATP8B1

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Minimum submission review status: Collection method:
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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 not provided total
87 67 328 558 153 6 1078

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 61 10 134 515 150 0 815
Progressive familial intrahepatic cholestasis type 1 23 9 109 8 36 6 184
ATP8B1-related disorder 6 5 42 65 0 0 118
not specified 1 0 25 37 22 0 79
Inborn genetic diseases 1 0 67 4 0 0 72
Benign recurrent intrahepatic cholestasis type 1 26 33 7 0 0 0 65
Progressive familial intrahepatic cholestasis 10 8 3 3 3 0 27
Cholestasis, intrahepatic, of pregnancy, 1 2 3 6 2 11 0 22
Progressive familial intrahepatic cholestasis type 1; Cholestasis, intrahepatic, of pregnancy, 1; Benign recurrent intrahepatic cholestasis type 1 2 12 4 2 1 0 21
Familial intrahepatic cholestasis type 1 2 0 0 0 0 0 2
Progressive familial intrahepatic cholestasis type 1; Benign recurrent intrahepatic cholestasis type 1 0 0 1 1 0 0 2
Alagille syndrome, ATP8B1 related 0 0 1 0 0 0 1
Progressive familial intrahepatic cholestasis type 1; Cholestasis, intrahepatic, of pregnancy, 1 0 1 0 0 0 0 1
Progressive familial intrahepatic cholestasis type 1; Intrahepatic cholestasis with episodic jaundice 0 0 1 0 0 0 1
Progressive familial intrahepatic cholestasis type 2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 53 6 23 488 37 0 607
GeneDx 3 1 15 50 124 0 193
Illumina Laboratory Services, Illumina 1 0 102 11 33 0 147
PreventionGenetics, part of Exact Sciences 6 4 42 65 15 0 132
Eurofins Ntd Llc (ga) 13 1 94 7 9 0 124
Breakthrough Genomics, Breakthrough Genomics 0 0 3 14 63 0 80
Ambry Genetics 1 0 67 4 0 0 72
Baylor Genetics 22 31 5 0 0 0 58
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 8 23 2 2 0 45
Fulgent Genetics, Fulgent Genetics 2 12 4 2 1 0 21
CeGaT Center for Human Genetics Tuebingen 2 0 5 8 2 0 17
OMIM 12 0 0 0 0 0 12
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 6 2 1 0 12
Genome-Nilou Lab 0 0 0 0 10 0 10
Revvity Omics, Revvity 1 2 6 0 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 2 1 6 0 0 0 9
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH 7 2 0 0 0 0 9
Mayo Clinic Laboratories, Mayo Clinic 1 0 7 0 0 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 5 1 0 0 7
Mendelics 0 4 2 0 0 0 6
GeneReviews 0 0 0 0 0 6 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 1 3 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 1 2 0 4
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 2 0 1 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 3 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 2 0 3
3billion 2 0 0 1 0 0 3
MGZ Medical Genetics Center 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 2
The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University 2 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 1 0 0 0 0 0 1

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