ClinVar Miner

Variants studied for Hermansky-Pudlak syndrome without pulmonary fibrosis

Included ClinVar conditions (3):
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
42 8 170 27 48 289

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HPS5 21 0 71 12 21 122
HPS6 11 4 39 4 8 64
HPS3 5 3 39 6 10 62
CP, HPS3 4 1 21 5 9 40
​intergenic 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 169 25 48 242
OMIM 24 0 0 0 0 24
GeneReviews 16 0 0 0 0 16
Laboratoire de Génétique Moléculaire, CHU Bordeaux 11 0 0 0 0 11
Genetic Services Laboratory,University of Chicago 2 1 0 0 0 3
Counsyl 0 1 0 1 1 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 1

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