ClinVar Miner

Variants in gene CTU2

See also:
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 total
6 6 163 84 52 294

Condition and significance breakdown #

Total conditions: 7
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 2 2 53 62 51 163
not specified 0 0 110 4 2 116
CTU2-related disorder 0 1 6 24 15 46
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 5 2 6 2 7 22
Congenital anomaly of kidney and urinary tract 0 1 1 0 0 2
See cases 0 0 2 0 0 2
Microcephaly 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 2 1 33 53 48 137
Ambry Genetics 0 0 110 3 0 113
PreventionGenetics, part of Exact Sciences 0 1 6 24 15 46
Breakthrough Genomics, Breakthrough Genomics 0 0 2 2 31 35
GeneDx 0 1 20 0 7 28
CeGaT Center for Human Genetics Tuebingen 0 0 0 11 0 11
Genome-Nilou Lab 0 0 1 0 7 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 0 1 0 0 6
Fulgent Genetics, Fulgent Genetics 0 1 1 2 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 3
Institute of Human Genetics, University Hospital Muenster 0 0 2 0 0 2
OMIM 1 0 0 0 0 1
Baylor Genetics 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 1
Revvity Omics, Revvity 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 0 1 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 1
3billion 1 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 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.