ClinVar Miner

Variants studied for congenital alacrima

Included ClinVar conditions (17):
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
198 97 577 144 140 1101

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ELP1 6 49 311 53 39 430
EDA 114 29 38 26 11 205
EDAR 33 10 81 16 38 172
NFKBIA 9 0 42 24 23 94
EDARADD 6 1 45 6 22 79
AAAS 12 4 43 8 1 65
ASIC4, GMPPA 5 0 9 11 5 30
IKBKG 10 4 4 0 0 18
CCDC138, EDAR, RANBP2 0 0 2 0 0 2
AAAS, MYG1 1 0 0 0 0 1
EDA2R 0 0 1 0 0 1
EDAR, RANBP2 0 0 0 0 1 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: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 2 2 264 41 101 410
Invitae 89 25 173 66 38 391
Natera, Inc. 1 1 170 31 16 219
Counsyl 0 42 24 6 0 72
OMIM 66 0 1 0 0 67
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 42 10 0 0 0 52
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 5 1 14 20
Integrated Genetics/Laboratory Corporation of America 1 6 4 0 0 11
Baylor Genetics 1 2 5 0 0 8
Mendelics 1 1 4 0 2 8
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 3 4 7
Medical Molecular Genetics Department, National Research Center 7 0 0 0 0 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 0 1 0 0 3
Institute of Human Genetics,University Hospital Ulm 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 2
Myriad Women's Health, Inc. 1 1 0 0 0 2
Biotechnology Lab, Dept of Biomolecular Sciences, University of Urbino 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 1
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 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
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 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
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 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
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 1
Genetics Unit,Juan Ramón Jiménez Hospital 0 1 0 0 0 1
Nilou-Genome Lab 0 0 1 0 0 1

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