ClinVar Miner

Variants in gene C2CD3

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
57 31 447 364 155 991

Condition and significance breakdown #

Total conditions: 10
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 51 14 327 338 153 860
Inborn genetic diseases 0 0 162 15 1 178
C2CD3-related disorder 0 2 1 35 6 44
Orofaciodigital syndrome type 14 7 13 20 1 3 42
not specified 0 0 6 3 5 14
Joubert syndrome 3 0 1 0 0 4
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 2 0 2
Jeune thoracic dystrophy 0 0 2 0 0 2
Rudimentary fibula; Ankle flexion contracture 0 2 0 0 0 2
See cases 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 49 9 290 331 74 753
Ambry Genetics 0 0 162 15 1 178
GeneDx 1 5 43 2 93 144
Breakthrough Genomics, Breakthrough Genomics 0 0 5 16 64 85
PreventionGenetics, part of Exact Sciences 0 2 1 35 6 44
CeGaT Center for Human Genetics Tuebingen 1 0 7 12 5 25
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 3 4 1 0 10
OMIM 5 0 0 0 0 5
Revvity Omics, Revvity 0 3 1 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 2 4
Baylor Genetics 0 0 3 0 0 3
Eurofins Ntd Llc (ga) 0 0 3 0 0 3
Fulgent Genetics, Fulgent Genetics 0 1 2 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 2 0 0 3
UW Hindbrain Malformation Research Program, University of Washington 3 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 1 2
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 1 2
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 2 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 2 0 0 2
Center for Reproductive Medicine, Peking University Third Hospital 0 2 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Department of Pediatrics, National Cheng-Kung University Hospital 0 2 0 0 0 2
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 2 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 1
Mendelics 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 1
New York Genome Center 0 1 0 0 0 1
3billion 0 0 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 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.