ClinVar Miner

Variants in gene TUBGCP6

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
106 52 1113 1047 111 37 2319

Condition and significance breakdown #

Total conditions: 32
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 97 31 926 994 111 0 2101
Inborn genetic diseases 1 0 352 62 0 0 415
Microcephaly and chorioretinopathy 1 12 24 48 7 9 4 100
not specified 0 0 50 31 10 0 91
TUBGCP6-related disorder 0 1 2 53 3 0 59
Retinal dystrophy 1 0 17 0 0 0 18
Uterine corpus endometrial carcinoma 0 0 0 0 0 8 8
Ovarian serous cystadenocarcinoma 0 0 0 0 0 5 5
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 5 5
Gastric cancer 0 0 0 0 0 4 4
Sarcoma 0 0 0 0 0 4 4
Acute myeloid leukemia 0 0 0 0 0 3 3
Cervical cancer 0 0 0 0 0 3 3
Colorectal cancer 0 0 0 0 0 3 3
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 3 3
Melanoma 0 0 0 0 0 3 3
Uterine carcinosarcoma 0 0 0 0 0 3 3
Adrenocortical carcinoma, hereditary 0 0 0 0 0 2 2
Clear cell carcinoma of kidney 0 0 0 0 0 2 2
Lung cancer 0 0 0 0 0 2 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Microcephaly and chorioretinopathy with or without intellectual disability 2 0 0 0 0 0 2
Optic atrophy 0 0 2 0 0 0 2
Uveal melanoma 0 0 0 0 0 2 2
Cholangiocarcinoma 0 0 0 0 0 1 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Intellectual disability 0 0 1 0 0 0 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Microcephaly 0 0 1 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
See cases 0 0 1 0 0 0 1
Thymoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 52
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 94 18 893 923 89 0 2017
Ambry Genetics 1 0 352 62 0 0 415
GeneDx 6 13 63 57 41 0 180
CeGaT Center for Human Genetics Tuebingen 1 0 14 72 3 0 90
Breakthrough Genomics, Breakthrough Genomics 0 0 16 31 33 0 80
PreventionGenetics, part of Exact Sciences 0 1 2 53 3 0 59
Genetic Services Laboratory, University of Chicago 2 0 31 21 3 0 57
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 33 33
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 11 7 0 0 21
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 1 0 19 0 0 0 20
Revvity Omics, Revvity 0 3 10 0 0 0 13
Baylor Genetics 0 0 11 0 0 0 11
Clinical Genetics, Academic Medical Center 0 0 0 4 7 0 11
Fulgent Genetics, Fulgent Genetics 0 0 7 4 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 5 1 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 1 2 3 0 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 3 0 0 0 6
OMIM 6 0 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 5 0 0 0 6
3billion 0 2 3 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 3 2 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 5 0 5
Service de Génétique Moléculaire, Hôpital Robert Debré 0 4 0 0 0 0 4
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 3 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 2 0 1 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 3 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 3 0 0 0 3
Dasa 1 1 0 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 1 0 0 2
Illumina Laboratory Services, Illumina 0 2 0 0 0 0 2
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 0 2 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 2 0 0 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 2 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 1 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 1 1
Hadassah Hebrew University Medical Center 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.