ClinVar Miner

Variants in gene INVS

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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 not provided total
86 27 429 408 51 4 930

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Nephronophthisis 76 14 318 379 27 4 814
Infantile nephronophthisis 16 11 119 24 7 0 171
not provided 9 1 101 15 26 0 151
Inborn genetic diseases 0 0 38 1 0 0 39
not specified 0 0 2 15 19 0 32
INVS-related condition 1 1 5 0 0 0 7
Kidney disorder 0 0 3 2 1 0 6

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 76 14 308 381 27 0 806
Eurofins Ntd Llc (ga) 6 0 92 3 10 0 111
Fulgent Genetics, Fulgent Genetics 6 5 66 13 2 0 92
Illumina Laboratory Services, Illumina 2 0 58 11 5 0 76
Ambry Genetics 0 0 38 1 0 0 39
GeneDx 2 0 6 4 26 0 38
Preventiongenetics, part of Exact Sciences 1 1 5 12 12 0 31
CeGaT Center for Human Genetics Tuebingen 1 0 3 7 0 0 11
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 3 2 1 0 6
Revvity Omics, Revvity Omics 0 1 5 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 3 2 0 6
OMIM 5 0 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 0 1 1 2 0 4
GeneReviews 0 0 0 0 0 4 4
Baylor Genetics 1 0 2 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 0 0 3
Clinical Genetics, Academic Medical Center 0 0 0 1 2 0 3
Mayo Clinic Laboratories, Mayo Clinic 1 0 2 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 2 0 3
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 3
Sydney Genome Diagnostics, Children's Hospital Westmead 2 0 1 0 0 0 3
Mendelics 0 0 0 0 2 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 0 1
Bionano Laboratories 1 0 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 0 0 0 0 0 1

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