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
22 18 134 54 24 225

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Saldino-Mainzer syndrome 16 7 125 46 22 203
not provided 3 1 9 7 3 22
Retinal dystrophy 1 6 7 0 0 14
not specified 0 0 0 5 3 8
Retinitis pigmentosa 80 3 0 2 0 0 5
Jeune thoracic dystrophy 4 4 0 0 0 4
Retinitis pigmentosa 1 1 0 0 0 2
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
Saldino-Mainzer syndrome; Retinitis pigmentosa 80 1 0 0 0 0 1
Short-rib thoracic dysplasia without polydactyly 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 7 4 96 45 23 175
Illumina Clinical Services Laboratory,Illumina 0 1 38 4 12 55
Blueprint Genetics 1 6 7 0 0 14
OMIM 7 0 0 0 0 7
GeneDx 2 0 2 1 2 7
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 3 2 1 6
Laboratory of Medical Genetics, INSERM 5 0 0 0 0 5
University of Washington Center for Mendelian Genomics, University of Washington 0 4 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 2 1 0 4
Dan Cohn Lab,University Of California Los Angeles 4 0 0 0 0 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 3 3
Ocular Genomics Institute, Massachusetts Eye and Ear 1 0 2 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 0 2 0 2
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
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 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
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
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
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 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

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