ClinVar Miner

Variants in gene HSD17B4

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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
22 52 120 39 24 1 221

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Bifunctional peroxisomal enzyme deficiency 10 41 44 13 5 0 110
not provided 4 11 72 10 14 0 105
not specified 0 0 11 21 18 0 45
Perrault syndrome 0 0 24 8 5 0 37
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 6 1 3 0 0 0 10
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1 0 3 1 1 3 1 9
Perrault syndrome 1 6 0 0 0 0 0 6
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: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
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 24 8 5 0 38
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 7 11 17 0 36
GeneDx 3 3 2 12 12 0 32
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 3 3 11 0 18
Invitae 6 1 3 1 3 0 14
OMIM 13 0 0 0 0 0 13
PreventionGenetics 0 0 0 3 8 0 11
Integrated Genetics/Laboratory Corporation of America 3 2 1 0 1 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 1 1 0 0 5
Athena Diagnostics Inc 0 1 0 0 3 0 4
Gharavi Laboratory,Columbia University 0 0 4 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 1 0 0 3
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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 1 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Mendelics 0 1 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
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 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

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