ClinVar Miner

Variants in gene IFT140

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Minimum submission review status: Collection method:
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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
32 17 302 125 32 461

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Saldino-Mainzer syndrome 21 4 280 102 30 411
not provided 6 5 27 22 1 61
Retinal dystrophy 2 6 10 0 0 18
not specified 0 0 0 8 11 15
Retinitis pigmentosa 80 6 1 0 0 0 7
Saldino-Mainzer syndrome; Joubert syndrome with Jeune asphyxiating thoracic dystrophy 3 0 0 0 0 3
Microcephaly 0 0 2 0 0 2
Saldino-Mainzer syndrome; Cranioectodermal dysplasia 2 0 0 0 0 2
Jeune thoracic dystrophy 1 1 0 0 0 1
Nephronophthisis 0 0 1 0 0 1
Orofacial-digital syndrome III; Short-rib thoracic dysplasia 1 with or without polydactyly 0 1 0 0 0 1
Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene 1 0 0 0 0 1
Retinitis pigmentosa 1 0 0 0 0 1
Short-rib thoracic dysplasia without polydactyly 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 13 3 210 109 23 358
Illumina Clinical Services Laboratory,Illumina 0 0 95 14 20 129
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 19 3 5 28
Blueprint Genetics 2 6 10 0 0 18
GeneDx 2 4 4 1 6 17
OMIM 9 0 0 0 0 9
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 4 4 8
Laboratory of Medical Genetics, INSERM 7 0 0 0 0 7
Genetic Services Laboratory, University of Chicago 0 0 0 4 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 4
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 1 1 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 3
Centogene AG - the Rare Disease Company 1 1 0 0 0 2
Mendelics 1 0 0 0 1 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Genetics Research Center,University of Social Welfare and Rehabilitation Sciences 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 1
Dan Cohn Lab,University Of California Los Angeles 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 1
Sydney Genome Diagnostics,Children's Hospital Westmead 0 0 1 0 0 1

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