ClinVar Miner

Variants in gene HSD17B4

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Minimum submission review status: Collection method:
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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
97 161 316 670 97 5 1226

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 73 36 153 585 31 0 878
not provided 8 21 110 78 82 0 279
Bifunctional peroxisomal enzyme deficiency 24 94 88 22 27 0 233
Perrault syndrome 1 11 7 42 8 25 0 93
not specified 1 0 19 17 18 0 53
HSD17B4-related condition 1 2 14 33 2 0 52
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1 2 31 8 1 1 1 43
Inborn genetic diseases 2 1 29 2 0 0 34
Perrault syndrome 0 0 1 0 1 4 6
Abnormality of the nervous system 0 1 0 0 0 0 1
Rare genetic deafness 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 73 36 153 585 31 0 878
GeneDx 5 8 27 70 80 0 190
Eurofins Ntd Llc (ga) 1 0 61 1 6 0 69
Illumina Laboratory Services, Illumina 0 0 41 12 18 0 63
Baylor Genetics 12 49 1 0 0 0 62
PreventionGenetics, part of Exact Sciences 1 2 14 34 10 0 61
Counsyl 0 37 18 5 0 0 60
Natera, Inc. 4 4 30 9 13 0 60
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 9 14 17 0 41
Ambry Genetics 2 1 29 2 0 0 34
Myriad Genetics, Inc. 0 26 2 0 0 0 28
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 9 8 0 3 0 26
Mayo Clinic Laboratories, Mayo Clinic 0 2 8 3 11 0 24
CeGaT Center for Human Genetics Tuebingen 1 3 8 6 0 0 18
Genome-Nilou Lab 0 0 2 0 12 0 14
OMIM 12 0 0 0 0 0 12
Revvity Omics, Revvity 2 4 5 0 0 0 11
Fulgent Genetics, Fulgent Genetics 1 3 5 1 1 0 11
Athena Diagnostics Inc 0 2 2 1 5 0 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 2 2 5 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 3 2 0 0 0 7
Mendelics 3 1 0 0 1 0 5
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 3 2 0 0 0 5
GeneReviews 0 0 0 0 0 4 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 3 0 0 0 0 4
Gharavi Laboratory, Columbia University 0 0 4 0 0 0 4
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 2 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 3 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 1 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 1 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 1 1 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 1 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 1 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
3billion 2 0 0 0 0 0 2
King Laboratory, University of Washington 0 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
ITMI 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 1
Suma Genomics 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1

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