ClinVar Miner

Variants studied for conjunctival tumor

Included ClinVar conditions (32):
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 not provided total
191 61 946 344 146 22 1648

Gene and significance breakdown #

Total genes and gene combinations: 25
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TERT 25 7 301 168 34 0 524
GATA2 15 5 169 73 15 0 269
RTEL1, RTEL1-TNFRSF6B 19 39 142 30 35 0 257
CTC1 11 2 86 23 21 0 143
TINF2 24 1 39 19 11 0 85
DKC1 46 4 13 5 4 22 70
TERC 12 2 45 0 1 0 59
PARN 10 0 24 6 6 0 46
ACD 2 0 25 3 9 0 39
LOC110806263, TERT 1 0 22 7 1 0 31
DCLRE1B 0 0 18 2 2 0 22
RTEL1, RTEL1-TNFRSF6B, TNFRSF6B 0 0 19 0 0 0 19
LOC110806306, TERC 7 0 10 0 1 0 17
NHP2 0 0 13 2 2 0 17
WRAP53 5 0 4 2 0 0 11
NHP2, RMND5B 3 0 3 1 2 0 9
NOP10 2 0 3 1 2 0 8
HRAS, LRRC56 5 0 0 1 0 0 6
CTC1, PFAS 0 0 4 1 0 0 5
KRAS 2 0 1 0 0 0 3
LOC110806263, LOC110806264, TERT 0 0 3 0 0 0 3
ARFRP1, RTEL1, RTEL1-TNFRSF6B, TNFRSF6B 0 0 2 0 0 0 2
ACTRT3, LOC110806306, TERC 1 0 0 0 0 0 1
INPP4A 0 1 0 0 0 0 1
NRAS 1 0 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 not provided total
Invitae 45 10 842 294 140 0 1331
GeneReviews 95 0 0 0 5 0 100
Counsyl 1 30 59 5 1 0 96
Illumina Clinical Services Laboratory,Illumina 0 0 41 37 4 0 82
OMIM 71 0 0 0 0 0 71
UniProtKB/Swiss-Prot 0 0 0 0 0 22 22
Fulgent Genetics,Fulgent Genetics 4 1 13 1 0 0 19
Genetic Services Laboratory, University of Chicago 6 9 0 0 0 0 15
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 9 0 0 0 9
Integrated Genetics/Laboratory Corporation of America 3 5 0 0 0 0 8
Johns Hopkins Genomics,Johns Hopkins University 0 0 0 6 0 0 6
Degerman lab,Umeå University 3 1 0 0 0 0 4
UCLA Clinical Genomics Center, UCLA 1 2 0 0 0 0 3
Bone Marrow Failure laboratory,Queen Mary University London 3 0 0 0 0 0 3
Stem Cell Engineering Center,Hunan Guangxiu Hospital 3 0 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 2 0 0 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Dobyns Lab,Seattle Children's Research Institute 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Human Genetics Unit,University of Colombo 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 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.