ClinVar Miner

Variants in gene IFT172

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Minimum submission review status: Collection method:
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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
29 12 241 99 27 392

Condition and significance breakdown #

Total conditions: 15
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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 14 3 230 66 15 328
not provided 1 3 11 23 8 46
not specified 0 0 1 17 11 28
Retinitis pigmentosa 71 3 1 3 0 0 7
Short-rib thoracic dysplasia 10 with or without polydactyly 2 2 2 0 0 6
Short-rib thoracic dysplasia 10 without polydactyly 6 0 0 0 0 6
Retinal dystrophy 0 1 3 0 0 4
Bardet-Biedl syndrome 20 2 0 0 0 0 2
Inborn genetic diseases 0 0 2 0 0 2
Nephronophthisis 0 0 2 0 0 2
Short-rib thoracic dysplasia 10 with polydactyly 2 0 0 0 0 2
Anophthalmia-microphthalmia syndrome 0 0 0 1 0 1
Bardet-Biedl syndrome 0 1 0 0 0 1
Joubert syndrome 1 0 0 0 0 1
Short rib-polydactyly syndrome, Majewski type 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 14 3 230 83 15 345
GeneDx 0 3 7 20 19 49
OMIM 13 0 0 0 0 13
Blueprint Genetics 0 1 3 0 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 2 0 0 3
Baylor Genetics 0 0 2 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 0 2
Ambry Genetics 0 0 2 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 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
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 1 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 1 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 1
UW Hindbrain Malformation Research Program,University of Washington 1 0 0 0 0 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 1 0 1
Dan Cohn Lab,University Of California Los Angeles 0 1 0 0 0 1
Moosajee Lab,UCL Institute of Ophthalmology 0 0 1 0 0 1

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