ClinVar Miner

Variants studied for dense granule disease

Included ClinVar conditions (17):
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 total
210 49 901 263 152 1476

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
LYST 45 3 280 60 32 383
RUNX1 20 12 186 96 32 325
AP3B1 13 0 79 15 23 111
HPS4 12 2 75 12 10 109
HPS1 27 10 46 14 18 108
HPS5 22 2 54 16 6 96
WAS 37 6 18 2 8 71
BLOC1S6 1 1 34 6 7 45
CP, HPS3 4 2 27 8 4 45
HPS3 6 4 27 5 3 43
HPS6 14 7 17 5 1 42
BLOC1S3 2 0 20 12 0 34
DTNBP1 3 0 23 5 2 32
WIPF1 1 0 11 3 6 21
BLOC1S3, TRAPPC6A 0 0 1 4 0 5
LOC109648314, LOC109648316, RUNX1, RUNX1-IT1 1 0 1 0 0 2
​intergenic 1 0 0 0 0 1
AP3D1 1 0 0 0 0 1
HPS1, LOC101927278 0 0 1 0 0 1
LOC109648316, RUNX1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 2 526 160 67 755
Invitae 32 3 375 85 74 569
GeneReviews 98 0 0 0 4 102
OMIM 79 0 0 0 0 79
ClinGen Myeloid Malignancy Variant Curation Expert Panel 14 8 15 5 10 52
NIHR Bioresource Rare Diseases, University of Cambridge 10 14 3 0 0 27
Fulgent Genetics,Fulgent Genetics 0 0 13 0 0 13
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 11 1 13
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 9 2 12
Integrated Genetics/Laboratory Corporation of America 4 6 1 0 0 11
Laboratoire de Génétique Moléculaire,CHU Bordeéaux 11 0 0 0 0 11
Genetic Services Laboratory, University of Chicago 7 2 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 7 0 0 8
Johns Hopkins Genomics,Johns Hopkins University 0 0 2 2 3 7
University of Washington Center for Mendelian Genomics,University of Washington 0 6 0 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 2 0 0 0 5
Blood Cell Research,Sanquin 5 0 0 0 0 5
San Raffaele Telethon Institute for Gene Therapy,San Raffaele Hospital 4 0 0 0 0 4
Counsyl 0 1 0 1 1 3
Center of Medical Genetics,Central South University 2 1 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 1 0 0 2
Fan Lab,Zhengzhou University 0 2 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 1 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 0 1
Department of Hematology - Research Laboratory 1,Postgraduate Institute of Medical Education and Research 0 1 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 1 1

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