ClinVar Miner

Variants studied for Perrault syndrome

Included ClinVar conditions (12):
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 not provided total
116 105 219 610 56 29 1082

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HSD17B4 80 75 190 593 45 5 959
LARS2 15 7 13 1 7 7 43
HARS2 4 11 7 2 1 3 23
HSD17B4, LOC129994460 3 0 1 13 0 1 17
TWNK 5 3 6 0 0 8 16
CLPP 5 4 1 1 1 3 12
CLPP, LOC130063288 1 2 0 0 1 1 4
ERAL1, LOC126862526 1 0 0 0 1 1 2
FBN1 1 1 0 0 0 0 2
PRORP, PRORP-PSMA6 0 2 0 0 0 0 2
CLDN14, SGO2 1 0 0 0 0 0 1
ERAL1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 76 36 154 598 31 0 895
Illumina Laboratory Services, Illumina 0 0 37 8 18 0 63
OMIM 29 0 0 0 0 0 29
GeneReviews 0 0 0 0 0 27 27
Myriad Genetics, Inc. 0 25 2 0 0 0 27
Genome-Nilou Lab 0 0 1 0 22 0 23
Fulgent Genetics, Fulgent Genetics 1 4 11 4 1 0 21
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 5 4 0 0 0 13
Baylor Genetics 0 0 7 0 0 0 7
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 4 1 1 0 6
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 5 0 0 0 0 5
Reproductive Development, Murdoch Childrens Research Institute 3 2 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 1 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 3 0 0 0 0 4
Precision Medicine Center, Zhengzhou University 1 3 0 0 0 0 4
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 2 0 2 0 0 0 4
Molecular Genetics and RNA Biology, Humanitas University 3 0 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 3 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
King Laboratory, University of Washington 0 2 0 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 1 1 0 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Mendelics 2 0 0 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 2 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Kids Research, The Children's Hospital at Westmead 0 2 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 1 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
National Institute on Deafness and Communication Disorders, National Institutes of Health 1 0 0 0 0 0 1
Laboratory of Molecular Genetics, National Institutes of Health 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
Noncommunicable Diseases Research Center, Fasa University of Medical Sciences 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Dept. of Evolution and Genomic Sciences, University of Manchester 0 1 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1
Manchester Centre for Genomic Medicine, The University of Manchester 0 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 1

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