ClinVar Miner

Variants studied for Hermansky-Pudlak syndrome

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
241 457 1149 541 184 12 2435

Gene and significance breakdown #

Total genes and gene combinations: 24
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AP3B1 47 34 401 347 44 2 838
HPS1 46 112 261 49 46 5 473
HPS3 25 131 107 14 20 1 282
HPS4 19 55 98 13 19 1 194
BLOC1S6 21 12 63 84 7 1 181
HPS5 27 19 79 13 19 0 149
CP, HPS3 13 39 50 9 14 0 115
HPS6 20 32 48 3 8 1 104
HPS6, LOC130004578 6 11 9 1 1 0 25
AP3D1 1 1 13 2 0 0 17
DTNBP1 3 4 4 3 1 0 15
BLOC1S3 5 0 6 0 1 0 12
HPS5, LOC126861152 0 0 8 0 4 0 12
BLOC1S5, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5 2 3 0 0 0 0 5
HPS5, LOC130005404 0 1 2 1 0 0 4
BLOC1S5 2 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 1
AGGF1, AP3B1, ARSB, CRHBP, F2RL1, LHFPL2, OTP, PDE8B, S100Z, SCAMP1, TBCA, WDR41, ZBED3 1 0 0 0 0 0 1
ETV6 0 1 0 0 0 0 1
HPS1, LOC130004494 0 0 0 1 0 0 1
HPS1, MIR4685 1 1 0 0 0 1 1
HPS1, PYROXD2 0 1 0 0 0 0 1
HPS4, LOC126863105 1 0 0 0 0 0 1
HPS4, LOC130067147 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 85
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 47 12 414 421 49 0 943
Illumina Laboratory Services, Illumina 0 1 371 49 97 0 518
Fulgent Genetics, Fulgent Genetics 37 98 181 41 3 0 360
Natera, Inc. 34 78 175 33 38 0 358
Baylor Genetics 54 183 8 0 0 0 245
OMIM 62 0 0 0 0 0 62
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 25 25 0 0 0 0 50
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 14 17 14 0 0 0 44
Genome-Nilou Lab 1 0 1 1 40 0 43
Revvity Omics, Revvity 12 15 14 1 0 0 42
Department of Pathology and Laboratory Medicine, Sinai Health System 2 4 30 1 1 0 38
Myriad Genetics, Inc. 3 35 0 0 0 0 38
NIHR Bioresource Rare Diseases, University of Cambridge 11 17 3 0 0 0 30
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 6 3 15 0 1 0 25
Laboratoire de Génétique Moléculaire, CHU Bordeaux 16 2 0 0 0 0 18
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics 14 4 0 0 0 0 18
Johns Hopkins Genomics, Johns Hopkins University 3 0 4 4 4 0 15
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 10 1 0 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 4 2 1 0 0 11
GeneReviews 2 0 0 0 0 8 10
Neuberg Centre For Genomic Medicine, NCGM 0 4 6 0 0 0 10
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 10 0 0 0 10
Juno Genomics, Hangzhou Juno Genomics, Inc 3 5 1 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 2 3 1 0 0 9
3billion 7 0 0 1 0 0 8
Genetic Services Laboratory, University of Chicago 5 1 0 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 1 1 4 0 0 0 6
University of Washington Center for Mendelian Genomics, University of Washington 0 6 0 0 0 0 6
Blood Cell Research, Sanquin 5 0 0 0 0 0 5
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 3 1 0 0 0 5
First Genomix Gene Laboratory, Genetic Diagnostics Department 2 3 0 0 0 0 5
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 5 0 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 2 0 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 0 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 4 0 0 0 0 0 4
Center of Medical Genetics, Central South University 2 1 0 0 0 0 3
Counsyl 0 1 0 1 1 0 3
Department of Dermatology, Faculty of Medicine, Yamagata University 3 0 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 0 0 0 0 0 2
Department of Pulmonology, Children’s Hospital, Zhejiang University School of Medicine 0 1 1 0 0 0 2
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 2 0 0 0 0 0 2
Dr.Nikuei Genetic Center 2 0 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 1 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Dasa 0 1 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Genetics Department, University Hospital of Toulouse 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 1 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Khatam Pathobiology and Genetic Lab 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
Markle Lab, Division of Molecular Pathogenesis, Vanderbilt University Medical Center 0 0 1 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Molecular Genetics, University Hospital Bordeaux 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Next Generation Genetic Polyclinic 0 0 1 0 0 0 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 0 1 0 0 0 0 1
Prabudh Goel Research Team, All India Institute Medical Sciences, New Delhi 0 0 1 0 0 0 1
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 1 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
Suma Genomics 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1

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