ClinVar Miner

Variants in gene combination IFT80, TRIM59-IFT80

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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
44 37 379 241 51 1 691

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Jeune thoracic dystrophy 36 15 245 223 31 0 544
Asphyxiating thoracic dystrophy 2 7 20 150 8 10 1 191
not provided 1 3 25 14 21 0 64
Inborn genetic diseases 0 0 57 0 0 0 57
Connective tissue disorder 0 0 5 7 3 0 15
IFT80-related disorder 1 1 1 6 2 0 11
not specified 0 1 0 2 9 0 11
Type IV short rib polydactyly syndrome 2 2 0 0 0 0 2
Short-rib thoracic dysplasia 10 with or without polydactyly 0 0 1 0 0 0 1
Short-rib thoracic dysplasia 6 with or without polydactyly 1 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 not provided total
Labcorp Genetics (formerly Invitae), Labcorp 34 11 235 229 31 0 540
Fulgent Genetics, Fulgent Genetics 0 16 81 0 0 0 97
Illumina Laboratory Services, Illumina 0 0 81 6 7 0 94
Ambry Genetics 0 0 57 0 0 0 57
GeneDx 1 3 7 0 20 0 31
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 3 7 5 5 0 20
Breakthrough Genomics, Breakthrough Genomics 0 0 4 3 11 0 18
Eurofins Ntd Llc (ga) 0 0 10 1 6 0 17
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 5 7 3 0 15
PreventionGenetics, part of Exact Sciences 1 1 1 6 2 0 11
OMIM 6 0 0 0 0 0 6
University of Washington Center for Mendelian Genomics, University of Washington 0 5 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 5 0 0 0 5
Dan Cohn Lab, University Of California Los Angeles 5 0 0 0 0 0 5
Revvity Omics, Revvity 1 1 2 0 0 0 4
CeGaT Center for Human Genetics Tuebingen 0 0 0 4 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 2 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 2 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 2 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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