ClinVar Miner

Variants in gene AP3B1

Minimum submission review status: Collection method:
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Gene type:
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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 total
17 0 192 79 35 285

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic uncertain significance likely benign benign total
Hermansky-Pudlak syndrome 2 17 177 53 26 252
not specified 0 6 9 18 30
not provided 0 4 21 1 26
Hermansky-Pudlak syndrome 0 8 6 5 19
Abnormal bleeding; Thrombocytopenia 0 1 0 0 1
Intellectual disability 0 1 0 0 1
Malignant tumor of prostate 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic uncertain significance likely benign benign total
Invitae 4 125 59 25 213
Illumina Clinical Services Laboratory,Illumina 0 63 14 10 87
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 1 16 19
Genetic Services Laboratory, University of Chicago 0 4 7 0 11
PreventionGenetics, PreventionGenetics 0 0 2 8 10
OMIM 8 0 0 0 8
GeneReviews 5 0 0 0 5
Blood Cell Research,Sanquin 5 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 5 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 1 0 4
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 3 4
Fulgent Genetics,Fulgent Genetics 0 3 0 0 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 1 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 1
Science for Life laboratory, Karolinska Institutet 0 1 0 0 1
Birmingham Platelet Group; University of Birmingham 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 1 0 0 1

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