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
114 101 216 610 56 29 1075

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 73 188 593 45 5 955
LARS2 14 7 12 1 7 7 42
HARS2 4 10 7 2 1 3 22
HSD17B4, LOC129994460 3 0 1 13 0 1 17
TWNK 5 3 6 0 0 8 16
CLPP 4 4 1 1 1 3 12
CLPP, LOC130063288 1 1 0 0 1 1 3
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: 47
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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
Baylor Genetics 0 0 7 0 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 3 2 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
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 2 0 0 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 Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 1 0 0 0 2
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 1 1 0 0 0 2
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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 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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