ClinVar Miner

Variants in gene TCTN2

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
45 51 359 290 77 749

Condition and significance breakdown #

Total conditions: 13
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Joubert syndrome; Meckel-Gruber syndrome 29 16 219 224 24 512
not provided 6 6 40 51 61 157
Meckel syndrome, type 8; Joubert syndrome 24 1 24 106 2 1 133
Joubert syndrome 24 8 1 53 2 14 78
Inborn genetic diseases 0 0 71 6 0 77
Meckel syndrome, type 8 3 2 59 4 9 76
not specified 0 0 11 21 17 37
TCTN2-related disorder 0 1 1 12 1 15
Joubert syndrome 8 0 1 0 0 9
Joubert syndrome and related disorders 3 5 0 0 0 8
Meckel syndrome, type 6 1 2 0 0 0 3
Meckel-Gruber syndrome 0 0 1 0 0 1
Microcephaly 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 34
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 29 16 219 228 24 516
Fulgent Genetics, Fulgent Genetics 1 24 104 1 1 131
GeneDx 3 3 25 35 64 130
Ambry Genetics 0 0 71 6 0 77
Illumina Laboratory Services, Illumina 0 1 58 5 12 69
Breakthrough Genomics, Breakthrough Genomics 0 0 3 16 36 55
PreventionGenetics, part of Exact Sciences 0 0 1 19 16 36
Genetic Services Laboratory, University of Chicago 2 0 4 14 3 23
CeGaT Center for Human Genetics Tuebingen 3 0 4 9 1 17
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 5 7 0 0 15
Eurofins Ntd Llc (ga) 1 1 6 2 1 11
UW Hindbrain Malformation Research Program, University of Washington 7 0 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 4 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 5 0 0 5
OMIM 4 0 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 3 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 4
Baylor Genetics 0 0 3 0 0 3
Revvity Omics, Revvity 2 0 1 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 2 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 1
3billion 0 0 0 1 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.