ClinVar Miner

Variants studied for congenital alacrima

Included ClinVar conditions (15):
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
155 83 261 79 44 583

Gene and significance breakdown #

Total genes and gene combinations: 15
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ELP1 7 46 169 53 22 271
EDA 82 21 22 0 2 123
AAAS 12 3 28 6 1 48
EDAR, RANBP2 20 8 13 3 7 48
NFKBIA 9 0 17 17 9 48
IKBKG 12 4 4 0 0 20
EDARADD 4 1 2 0 3 10
ASIC4, GMPPA 5 0 2 0 0 7
CCDC138, EDAR, RANBP2 0 0 2 0 0 2
AAAS, C12orf10 1 0 0 0 0 1
EDA2R 0 0 1 0 0 1
EDAR 1 0 0 0 0 1
G6PD, IKBKG 0 0 1 0 0 1
GMPPA 1 0 0 0 0 1
WNT10A 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 49 20 143 28 34 274
Illumina Clinical Services Laboratory,Illumina 2 2 98 43 8 153
Counsyl 1 41 24 6 0 72
OMIM 68 0 1 0 0 69
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 40 10 0 0 0 50
Integrated Genetics/Laboratory Corporation of America 1 4 4 0 0 9
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 3 4 7
Genomic Research Center,Shahid Beheshti University of Medical Sciences 3 2 1 0 0 6
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 2 0 0 1 1 4
GeneReviews 3 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 2 1 0 0 0 3
Institute of Human Genetics,University Hospital Ulm 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 1 0 0 0 1
Mendelics 1 0 0 0 0 1
Centre for Genetic Disorders, Banaras Hindu University 1 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 1
Department of Immunology,University Hospital Southampton NHSFT 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 1
Breda Genetics srl 1 0 0 0 0 1
Children’s Hospital, Clinical research laboratory,Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden 1 0 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.