ClinVar Miner

Variants in gene combination IFT172, KRTCAP3

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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 not provided total
11 7 90 74 13 1 184

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 10 6 72 64 7 0 159
not provided 0 0 13 6 7 0 26
IFT172-related condition 0 0 15 9 1 0 25
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2 1 14 6 0 0 23
Retinal dystrophy 0 0 7 2 1 0 10
Inborn genetic diseases 0 0 8 0 0 0 8
not specified 0 0 0 1 2 0 3
Short-rib thoracic dysplasia 10 with or without polydactyly 1 0 0 0 0 1 2
Anophthalmia-microphthalmia syndrome 0 0 0 1 0 0 1
Bardet-Biedl syndrome 20 1 0 0 0 0 0 1
Retinitis pigmentosa 1 0 0 0 0 0 1
Retinitis pigmentosa 71 1 0 0 0 0 0 1
Short-rib thoracic dysplasia 10 without polydactyly 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 10 6 72 65 7 0 160
PreventionGenetics, part of Exact Sciences 0 0 15 9 1 0 25
Fulgent Genetics, Fulgent Genetics 2 1 14 6 0 0 23
GeneDx 0 0 9 5 8 0 22
Dept Of Ophthalmology, Nagoya University 0 0 7 2 1 0 10
Ambry Genetics 0 0 8 0 0 0 8
OMIM 4 0 0 0 0 0 4
Revvity Omics, Revvity 0 0 2 0 0 0 2
CeGaT Center for Human Genetics Tuebingen 0 0 0 1 1 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 0 1 0 1
Clinical Genetics, Academic Medical Center 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 1 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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