ClinVar Miner

Variants in gene AP3B1

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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 not provided total
35 29 412 292 81 4 780

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hermansky-Pudlak syndrome 2 35 26 366 247 44 1 688
not provided 0 0 21 33 45 3 97
not specified 0 0 14 20 33 0 59
Autoinflammatory syndrome 1 0 14 13 9 0 37
Inborn genetic diseases 0 0 33 0 0 0 33
AP3B1-related condition 0 1 1 20 1 0 23
Hermansky-Pudlak syndrome 0 2 9 6 5 0 22
Abnormal bleeding; Thrombocytopenia 0 0 1 0 0 0 1
Intellectual disability 0 0 1 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 24 5 318 244 42 0 633
Illumina Laboratory Services, Illumina 0 0 63 14 10 0 87
GeneDx 0 0 11 14 44 0 69
Genome Diagnostics Laboratory, The Hospital for Sick Children 1 0 14 13 9 0 37
Ambry Genetics 0 0 33 0 0 0 33
PreventionGenetics, part of Exact Sciences 0 1 1 22 9 0 33
Baylor Genetics 2 17 0 0 0 0 19
Genetic Services Laboratory, University of Chicago 0 0 5 14 0 0 19
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 2 1 16 0 19
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 7 4 3 0 16
Fulgent Genetics, Fulgent Genetics 0 1 9 3 0 0 13
CeGaT Center for Human Genetics Tuebingen 0 0 5 7 1 0 13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 10 1 0 13
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 12 0 12
Clinical Genetics, Academic Medical Center 0 0 2 1 8 0 11
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 6 3 0 9
OMIM 8 0 0 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 1 0 0 8
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 0 0 0 6
Blood Cell Research, Sanquin 5 0 0 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 3 0 4
Revvity Omics, Revvity 0 1 2 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Eurofins Ntd Llc (ga) 0 0 0 1 1 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 1 1 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Birmingham Platelet Group; University of Birmingham 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 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

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