Variants in gene TUBGCP6

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
85	40	973	876	112	2	1992

Condition and significance breakdown #

Total conditions: 8

Download table as spreadsheet

Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
not provided	78	24	904	847	112	0	1913
Inborn genetic diseases	1	0	108	23	0	0	132
not specified	0	0	39	24	10	0	73
Microcephaly and chorioretinopathy 1	8	15	34	7	9	2	72
TUBGCP6-related condition	0	1	2	51	3	0	57
Microcephaly and chorioretinopathy with or without intellectual disability	2	0	0	0	0	0	2
Microcephaly	0	0	1	0	0	0	1
See cases	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 40

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	75	14	876	781	88	0	1834
GeneDx	3	10	48	57	41	0	159
Ambry Genetics	1	0	108	23	0	0	132
CeGaT Center for Human Genetics Tuebingen	1	0	10	46	2	0	59
Genetic Services Laboratory, University of Chicago	2	0	31	21	3	0	57
PreventionGenetics, part of Exact Sciences	0	1	2	51	3	0	57
Baylor Genetics	0	0	11	0	0	0	11
Clinical Genetics, Academic Medical Center	0	0	0	4	7	0	11
Revvity Omics, Revvity	0	1	9	0	0	0	10
Fulgent Genetics, Fulgent Genetics	0	0	5	4	0	0	9
OMIM	6	0	0	0	0	0	6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	5	0	0	0	6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	5	1	0	6
Genome-Nilou Lab	0	0	0	0	6	0	6
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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	0	0	3	0	0	0	3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	3	0	0	0	3
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	0	0	3	0	0	0	3
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center	0	0	0	0	2	0	2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	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
MGZ Medical Genetics Center	0	1	0	0	0	0	1
Mendelics	0	0	0	0	1	0	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	0	0	1	0	0	1
NeuroMeGen, Hospital Clinico Santiago de Compostela	0	1	0	0	0	0	1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	0	0	1	0	0	0	1
Daryl Scott Lab, Baylor College of Medicine	0	0	1	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	1	0	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	0	0	0	1
GenomeConnect - CFC International	0	0	0	0	0	1	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	0	1	0	0	0	1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center	0	0	1	0	0	0	1
Lifecell International Pvt. Ltd	0	1	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
DASA	1	0	0	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	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. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.