ClinVar Miner

Variants studied for Hermansky-Pudlak syndrome with pulmonary fibrosis

Included ClinVar conditions (4):
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
102 247 456 79 82 7 911

Gene and significance breakdown #

Total genes and gene combinations: 19
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HPS1 46 112 261 49 46 5 473
HPS4 19 55 98 13 19 1 194
HPS3 12 40 68 11 12 0 143
CP, HPS3 4 16 25 4 5 0 53
HPS6 5 11 1 0 0 0 16
HPS5 4 5 1 0 0 0 10
HPS6, LOC130004578 5 1 0 0 0 0 6
AP3B1 1 1 1 0 0 0 3
BLOC1S6 1 2 0 0 0 0 3
DTNBP1 1 1 0 0 0 0 2
BLOC1S3 0 0 1 0 0 0 1
BLOC1S5 1 0 0 0 0 0 1
BLOC1S5, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5 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: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Natera, Inc. 34 78 175 33 38 0 358
Fulgent Genetics, Fulgent Genetics 19 36 138 30 2 0 225
Illumina Laboratory Services, Illumina 0 1 149 16 44 0 210
Baylor Genetics 30 83 2 0 0 0 115
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
NIHR Bioresource Rare Diseases, University of Cambridge 11 15 3 0 0 0 28
Genome-Nilou Lab 1 0 0 0 22 0 23
OMIM 17 0 0 0 0 0 17
Revvity Omics, Revvity 6 4 4 0 0 0 14
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics 12 1 0 0 0 0 13
Department of Pathology and Laboratory Medicine, Sinai Health System 2 0 10 0 0 0 12
Johns Hopkins Genomics, Johns Hopkins University 3 0 4 3 1 0 11
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 4 0 4 0 0 0 8
GeneReviews 0 0 0 0 0 6 6
University of Washington Center for Mendelian Genomics, University of Washington 0 6 0 0 0 0 6
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 3 1 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 2 0 1 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 0 5 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 1 0 0 0 0 4
Center of Medical Genetics, Central South University 2 1 0 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 3 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 0 0 0 0 3
Myriad Genetics, Inc. 2 1 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 0 0 0 0 3
3billion 2 0 0 0 0 0 2
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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 2
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 2 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 2 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 0 1 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomics And Bioinformatics Analysis Resource, Columbia University 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 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
Molecular Genetics, University Hospital Bordeaux 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
Variantyx, Inc. 1 0 0 0 0 0 1

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