ClinVar Miner

Variants in gene combination IFT140, LOC105371046

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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
46 32 301 247 47 583

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Saldino-Mainzer syndrome 38 12 237 233 29 521
Saldino-Mainzer syndrome; Retinitis pigmentosa 80 5 3 47 23 1 79
not provided 6 4 21 6 27 61
Retinal dystrophy 1 6 29 4 4 44
Inborn genetic diseases 0 0 24 4 0 28
IFT140-related condition 4 3 6 8 1 22
Retinitis pigmentosa 80 7 2 5 0 4 18
not specified 0 0 8 5 3 16
Retinitis pigmentosa 2 4 0 0 0 6
Jeune thoracic dystrophy 4 4 0 0 0 4
Myoepithelial tumor 0 0 1 0 0 1
Nephronophthisis 1 0 0 0 0 1
Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene 1 0 0 0 0 1
Saldino-Mainzer syndrome; Joubert syndrome with Jeune asphyxiating thoracic dystrophy 1 0 0 0 0 1
Short-rib thoracic dysplasia without polydactyly 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 29 9 205 229 25 497
Fulgent Genetics, Fulgent Genetics 5 3 47 23 1 79
Illumina Laboratory Services, Illumina 0 1 38 4 12 55
GeneDx 2 1 13 1 28 45
Dept Of Ophthalmology, Nagoya University 0 0 22 4 4 30
Ambry Genetics 0 0 24 4 0 28
PreventionGenetics, part of Exact Sciences 4 3 6 8 1 22
Blueprint Genetics 1 6 7 0 0 14
CeGaT Center for Human Genetics Tuebingen 3 2 2 5 1 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 7 0 0 10
OMIM 7 0 0 0 0 7
Eurofins Ntd Llc (ga) 0 0 3 2 1 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 3 5
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 5 0 0 0 0 5
DBGen Ocular Genomics 1 0 4 0 0 5
University of Washington Center for Mendelian Genomics, University of Washington 0 4 0 0 0 4
Dan Cohn Lab, University Of California Los Angeles 4 0 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 4
Genetic Services Laboratory, University of Chicago 0 0 1 2 0 3
Revvity Omics, Revvity 2 1 0 0 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 1 0 2 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 1 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 2
3billion 1 1 0 0 0 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 1
Clinical Genetics, Academic Medical Center 0 0 0 1 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 1
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 1 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 1 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 1

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