ClinVar Miner

Variants studied for Pontocerebellar hypoplasia type 6

Coded as:
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 total
29 127 66 20 22 236

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RARS2 29 127 66 20 21 235
RARS2, SLC35A1 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 33
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Baylor Genetics 17 106 9 0 0 132
Natera, Inc. 1 2 26 15 11 55
Illumina Laboratory Services, Illumina 0 0 22 5 8 35
Fulgent Genetics, Fulgent Genetics 3 9 7 1 0 20
Revvity Omics, Revvity 2 7 6 0 0 15
Genome-Nilou Lab 0 0 1 1 12 14
Mendelics 5 3 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 3 0 0 6
OMIM 4 0 0 0 0 4
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 1 2 1 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 2 2
Dobyns Lab, Seattle Children's Research Institute 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 2
Kids Research, The Children's Hospital at Westmead 0 1 1 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 2 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 2 0 0 0 2
MGZ Medical Genetics Center 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 1
New York Genome Center 0 1 0 0 0 1
Pars Genome Lab 0 0 1 0 0 1
DASA 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.