ClinVar Miner

Variants in gene HSD17B4

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 not provided total
42 59 155 132 29 1 356

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 26 5 21 95 15 0 162
Bifunctional peroxisomal enzyme deficiency 17 45 73 15 18 0 156
not provided 5 11 79 18 15 0 120
Perrault syndrome 1 7 0 34 8 17 0 66
not specified 1 0 11 25 18 0 49
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1 1 4 1 0 0 1 7
none provided 0 0 1 0 5 0 6
Perrault syndrome 0 0 1 0 1 0 2
HSD17B4-Related Disorders 1 0 0 0 0 0 1
Rare genetic deafness 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 26 5 21 97 15 0 164
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 63 1 6 0 72
Counsyl 0 38 19 5 0 0 62
Illumina Clinical Services Laboratory,Illumina 1 0 39 12 18 0 62
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 9 15 17 0 42
GeneDx 3 3 2 12 12 0 32
Natera, Inc. 1 2 15 2 12 0 32
Mayo Clinic Laboratories, Mayo Clinic 0 1 3 3 11 0 18
OMIM 13 0 0 0 0 0 13
CeGaT Praxis fuer Humangenetik Tuebingen 1 3 6 2 0 0 12
PreventionGenetics, PreventionGenetics 0 0 0 3 8 0 11
Integrated Genetics/Laboratory Corporation of America 6 2 0 0 2 0 10
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 2 1 5 0 9
Athena Diagnostics Inc 0 1 1 1 5 0 8
Baylor Genetics 5 1 1 0 0 0 7
Gharavi Laboratory,Columbia University 0 0 4 0 0 0 4
Mendelics 1 1 0 0 1 0 3
Elsea Laboratory,Baylor College of Medicine 1 1 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 1 1 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 1 0 2
Myriad Women's Health, Inc. 0 2 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 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
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 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

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