ClinVar Miner

Variants studied for Perrault syndrome 1

Coded as:
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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 total
16 18 45 8 25 112

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 total
HSD17B4 12 9 44 8 25 98
DAP3 1 2 1 0 0 4
MRPL49 0 4 0 0 0 4
FBN1 1 1 0 0 0 2
PRORP, PRORP-PSMA6 0 2 0 0 0 2
CLPP 1 0 0 0 0 1
HSD17B4, LOC129994460 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 36 8 17 61
Genome-Nilou Lab 0 0 1 0 12 13
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 5 4 0 0 12
Newman Lab, University of Manchester 1 6 1 0 0 8
OMIM 6 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 3
Mendelics 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 1 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 2
King Laboratory, University of Washington 0 1 0 0 0 1
National Institute on Deafness and Communication Disorders, National Institutes of Health 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Dept. of Evolution and Genomic Sciences, University of Manchester 0 1 0 0 0 1
Manchester Centre for Genomic Medicine, The University of Manchester 0 1 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 1

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