ClinVar Miner

Variants in gene RETREG1

See also:
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
16 5 219 131 44 396

Condition and significance breakdown #

Total conditions: 9
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 14 2 154 123 42 330
Inborn genetic diseases 0 1 62 13 0 76
Neuropathy, hereditary sensory and autonomic, type 2B 5 2 36 6 14 61
not specified 0 0 6 3 7 16
Hereditary sensory and autonomic neuropathy type 2 0 0 6 0 2 8
Charcot-Marie-Tooth disease 0 0 4 0 0 4
Neuropathy, hereditary sensory and autonomic, type 2A; Neuropathy, hereditary sensory and autonomic, type 2B 0 0 3 1 0 4
RETREG1-related disorder 0 0 0 2 1 3
Hereditary spastic paraplegia 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 29
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 11 2 142 101 14 270
GeneDx 3 0 17 25 35 80
Ambry Genetics 0 1 62 13 0 76
Illumina Laboratory Services, Illumina 0 0 35 4 11 50
Breakthrough Genomics, Breakthrough Genomics 0 0 3 5 22 30
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 3 3 6 13
CeGaT Center for Human Genetics Tuebingen 0 0 2 5 0 7
OMIM 4 0 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 0 0 4
Inherited Neuropathy Consortium 0 0 4 0 0 4
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 4 0 0 4
PreventionGenetics, part of Exact Sciences 0 0 0 2 1 3
Genome-Nilou Lab 0 0 0 0 3 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 2
Eurofins Ntd Llc (ga) 0 0 2 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 2
Baylor Genetics 1 0 0 0 0 1
Revvity Omics, Revvity 1 0 0 0 0 1
Clinical Genetics, Academic Medical Center 0 0 0 0 1 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 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.