ClinVar Miner

Variants in gene combination FBXO11, MSH6

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
20 16 42 72 12 1 146

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 8 3 25 69 11 0 113
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 14 9 4 0 0 0 26
Inborn genetic diseases 0 1 5 2 0 0 8
Neurodevelopmental disorder 0 7 1 0 0 0 8
Hereditary nonpolyposis colorectal neoplasms 1 0 3 0 1 0 5
not specified 0 0 3 0 1 1 5
Lynch syndrome 5 0 0 3 0 0 0 3
Lynch syndrome 1 0 0 0 1 0 2
Hereditary cancer 0 0 0 1 0 0 1
Hereditary cancer-predisposing syndrome 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 3 1 16 68 10 0 98
GeneDx 4 0 8 0 0 0 12
Institute of Human Genetics, University of Leipzig Medical Center 8 1 1 0 0 0 10
Ambry Genetics 0 1 5 2 0 0 8
University of Washington Center for Mendelian Genomics, University of Washington 0 7 1 0 0 0 8
CeGaT Center for Human Genetics Tuebingen 1 1 3 1 1 0 7
Mendelics 0 0 3 1 0 0 4
OMIM 3 0 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 2 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 1 0 2
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 1 0 0 0 1 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 0 1 0 1
Sema4, Sema4 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 0 1 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
ITMI 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1

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