ClinVar Miner

Variants studied for Hermansky-Pudlak syndrome

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
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
176 298 969 443 190 10 1962

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AP3B1 35 28 374 253 45 1 694
HPS1 33 67 135 47 46 4 300
HPS4 14 39 121 18 23 1 204
HPS3 17 88 63 13 20 1 191
BLOC1S6 13 10 62 75 7 1 162
HPS5 21 6 81 12 19 0 135
CP, HPS3 10 28 45 12 15 0 101
HPS6 12 22 43 3 8 1 87
HPS6, LOC130004578 5 5 9 1 1 0 18
DTNBP1 3 2 10 3 0 0 17
BLOC1S3 5 0 6 1 1 0 13
AP3D1 1 1 8 2 0 0 12
HPS5, LOC126861152 0 0 8 0 4 0 12
BLOC1S5, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5 2 1 0 0 0 0 3
HPS4, LOC130067147 0 0 1 1 1 0 3
HPS5, LOC130005404 0 0 2 1 0 0 3
BLOC1S5 2 0 0 0 0 0 2
HPS1, LOC130004494 0 0 1 1 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
HPS1, MIR4685 1 1 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 38 10 377 313 48 0 786
Illumina Laboratory Services, Illumina 0 1 446 65 115 0 627
Baylor Genetics 47 157 6 0 0 0 210
Natera, Inc. 14 5 72 31 38 0 160
Fulgent Genetics, Fulgent Genetics 16 8 74 40 3 0 141
OMIM 57 0 0 0 0 0 57
Genome-Nilou Lab 1 0 1 1 40 0 43
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 14 11 14 0 0 0 39
Revvity Omics, Revvity 10 12 14 0 0 0 36
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 25 0 0 0 0 35
Myriad Genetics, Inc. 1 34 0 0 0 0 35
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 11 2 0 0 0 0 13
Johns Hopkins Genomics, Johns Hopkins University 1 0 4 3 4 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 10 1 0 0 11
GeneReviews 2 0 0 0 0 8 10
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 10 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 0 4 3 0 0 0 7
Genetic Services Laboratory, University of Chicago 5 1 0 0 0 0 6
University of Washington Center for Mendelian Genomics, University of Washington 0 6 0 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 1 1 4 0 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 2 1 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 2 0 0 0 0 5
Blood Cell Research, Sanquin 5 0 0 0 0 0 5
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux 5 0 0 0 0 0 5
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 5 0 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 0 0 3
Counsyl 0 1 0 1 1 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
Center of Medical Genetics, Central South University 2 1 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 2 0 0 0 0 3
3billion 3 0 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 1 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Suma Genomics 0 0 1 0 0 0 1
DASA 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Markle Lab, Division of Molecular Pathogenesis, Vanderbilt University Medical Center 0 0 1 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 1 0 0 0 0 0 1

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