ClinVar Miner

Variants studied for Perrault syndrome 1

Included ClinVar conditions (2):
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
18 53 52 9 25 1 154

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HSD17B4 14 44 51 9 25 1 140
DAP3 1 2 1 0 0 0 4
MRPL49 0 4 0 0 0 0 4
FBN1 1 1 0 0 0 0 2
PRORP, PRORP-PSMA6 0 2 0 0 0 0 2
CLPP 1 0 0 0 0 0 1
HSD17B4, LOC129994460 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 36 8 17 0 61
Myriad Genetics, Inc. 0 25 2 0 0 0 27
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 7 5 0 0 0 15
Genome-Nilou Lab 0 0 1 0 12 0 13
Fulgent Genetics, Fulgent Genetics 1 3 5 1 1 0 11
Newman Lab, University of Manchester 1 6 1 0 0 0 8
OMIM 6 0 0 0 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 2 0 0 0 0 3
Elsea Laboratory, Baylor College of Medicine 1 1 0 0 0 0 2
Mendelics 2 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 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
King Laboratory, University of Washington 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 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
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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Dept. of Evolution and Genomic Sciences, University of Manchester 0 1 0 0 0 0 1
Manchester Centre for Genomic Medicine, The University of Manchester 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 1 0 0 0 0 1

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