ClinVar Miner

Variants in gene IMPDH1

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
24 23 320 255 46 597

Condition and significance breakdown #

Total conditions: 10
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 16 6 226 243 37 507
Retinal dystrophy 0 12 45 5 12 71
Leber congenital amaurosis 11 2 2 55 7 4 69
Retinitis pigmentosa 1 4 41 13 8 66
Inborn genetic diseases 0 0 30 2 0 32
Retinitis pigmentosa 10 6 3 7 1 1 18
IMPDH1-related disorder 0 0 4 9 1 14
not specified 0 0 3 3 4 10
Retinitis pigmentosa 10; Leber congenital amaurosis 11 0 0 7 0 0 7
Leber congenital amaurosis 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 37
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 16 4 209 236 30 495
Illumina Laboratory Services, Illumina 0 0 51 16 8 62
Dept Of Ophthalmology, Nagoya University 0 5 18 2 12 37
Ambry Genetics 0 0 30 2 0 32
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 6 14 3 0 23
GeneDx 1 1 9 1 5 17
Eurofins Ntd Llc (ga) 0 0 13 3 1 17
Blueprint Genetics 0 2 13 0 0 15
PreventionGenetics, part of Exact Sciences 0 0 4 9 1 14
Breakthrough Genomics, Breakthrough Genomics 0 0 4 5 5 14
CeGaT Center for Human Genetics Tuebingen 0 1 3 6 2 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 7 0 8
Clinical Genetics, Academic Medical Center 0 0 0 4 3 7
OMIM 6 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 4 0 0 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 2 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 0 0 4
DBGen Ocular Genomics 1 1 1 0 1 4
Fulgent Genetics, Fulgent Genetics 0 0 3 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 2 0 0 2
3billion 0 0 2 0 0 2
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 1 1 0 0 2
Molecular Genetics Laboratory, Institute for Ophthalmic Research 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 1
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 0 0 1 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.