ClinVar Miner

Variants in gene IFT172

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Gene type:
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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
55 36 526 486 51 1091

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 41 20 445 413 24 943
IFT172-related condition 0 3 78 72 4 157
not provided 2 5 66 59 28 156
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 1 4 97 44 0 146
Inborn genetic diseases 1 1 50 1 0 53
Retinal dystrophy 1 1 29 6 0 37
not specified 0 0 11 10 15 35
Short-rib thoracic dysplasia 10 with or without polydactyly 2 3 3 0 3 11
Retinitis pigmentosa 71 3 1 3 0 3 10
Short-rib thoracic dysplasia 10 without polydactyly 5 0 0 0 0 5
Bardet-Biedl syndrome 0 2 1 0 0 3
Bardet-Biedl syndrome 20 3 0 0 0 0 3
Bardet-Biedl syndrome 22 2 0 0 0 0 2
Nephronophthisis 0 0 2 0 0 2
Bardet-Biedl syndrome 1 0 0 1 0 0 1
Familial aplasia of the vermis 1 0 0 0 0 1
IFT172-Related Disorders 0 1 0 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 1
Retinitis pigmentosa 0 0 1 0 0 1
Short-rib thoracic dysplasia 10 with polydactyly 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 40 20 444 421 24 949
PreventionGenetics, part of Exact Sciences 0 3 78 72 4 157
Fulgent Genetics, Fulgent Genetics 2 4 95 44 0 145
GeneDx 0 4 55 43 36 138
Ambry Genetics 1 1 50 1 0 53
Dept Of Ophthalmology, Nagoya University 1 1 27 6 0 35
Genetic Services Laboratory, University of Chicago 0 0 11 3 4 18
OMIM 14 0 2 0 0 15
CeGaT Center for Human Genetics Tuebingen 0 0 1 10 1 12
Revvity Omics, Revvity 1 2 7 0 0 10
Clinical Genetics, Academic Medical Center 0 0 0 2 7 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 8 0 9
New York Genome Center 0 0 9 0 0 9
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 5 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 3 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 2 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Baylor Genetics 0 1 1 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 2
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 1 1 0 0 2
Blueprint Genetics 0 0 2 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 1 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 2
Department of Neurology, Kindai University 2 0 0 0 0 2
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 2 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
UW Hindbrain Malformation Research Program, University of Washington 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 1 0 0 1
Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
Moosajee Lab, UCL Institute of Ophthalmology 0 0 1 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 1
DBGen Ocular Genomics 0 0 1 0 0 1

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