ClinVar Miner

Variants studied for Pontocerebellar hypoplasia type 6

Coded as:
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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
33 143 68 20 22 255

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RARS2 33 143 68 20 21 254
RARS2, SLC35A1 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Baylor Genetics 17 106 9 0 0 132
Fulgent Genetics, Fulgent Genetics 9 39 8 1 0 57
Natera, Inc. 1 2 26 15 11 55
Illumina Laboratory Services, Illumina 0 0 22 5 8 35
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
New York Genome Center 0 1 1 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
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

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