ClinVar Miner

Variants studied for cataract associated with a metabolic disease

Included ClinVar conditions (13):
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 other not provided total
620 334 763 487 141 1 3 2048

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
MAN2B1 70 88 194 176 35 0 0 479
GALT 255 103 115 53 40 0 0 457
GLA, RPL36A-HNRNPH2 191 103 121 68 13 1 3 452
CLPB 29 3 111 50 14 0 0 200
GALK1 18 20 63 59 11 0 0 146
PEX7 24 8 63 51 9 0 0 144
GALE 12 5 58 17 6 0 0 86
PHYH 3 4 33 10 7 0 0 53
GLA 12 0 0 0 0 0 0 12
GALK1, ITGB4 0 0 4 2 5 0 0 10
GALM 5 0 0 0 0 0 0 5
GALE, HMGCL 0 0 0 1 1 0 0 2
GALT, IL11RA, LOC121331325 1 0 0 0 0 0 0 1
MYLK2 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 240 66 333 412 68 1 0 1120
Illumina Clinical Services Laboratory,Illumina 3 3 233 40 47 0 0 326
Research and Development, ARUP Laboratories 223 1 6 1 33 0 0 264
Counsyl 13 117 82 7 1 0 0 220
Integrated Genetics/Laboratory Corporation of America 122 69 1 1 7 0 0 200
Natera, Inc. 13 3 66 22 32 0 0 136
OMIM 111 0 1 0 0 0 0 112
Color Health, Inc 1 3 41 39 6 0 0 90
GeneReviews 44 0 2 0 7 0 0 53
Baylor Genetics 28 8 15 0 0 0 0 51
Albrecht-Kossel-Institute,Medical University Rostock 21 9 16 0 0 0 0 46
Myriad Women's Health, Inc. 6 37 0 0 0 0 0 43
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 41 0 0 0 0 42
Broad Institute Rare Disease Group, Broad Institute 2 3 19 5 0 0 0 29
Mendelics 5 9 3 4 7 0 0 28
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 7 3 1 0 6 0 0 17
Fulgent Genetics,Fulgent Genetics 13 1 2 1 0 0 0 17
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 8 8 0 0 0 0 0 16
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 3 7 0 0 11
Centre for Mendelian Genomics,University Medical Centre Ljubljana 5 2 1 0 0 0 0 8
CeMIA 2 4 1 0 0 0 0 7
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 2 4 0 0 0 6
Centogene AG - the Rare Disease Company 4 1 0 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 4 0 0 0 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 1 2 0 1 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 1 3 0 0 0 0 4
Blueprint Genetics 1 2 1 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 0 0 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 2 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 2 0 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 3 0 0 0 1 0 0 4
SIB Swiss Institute of Bioinformatics 0 2 0 0 2 0 0 4
LifeCell International Pvt. Ltd 3 0 0 0 1 0 0 4
CSER _CC_NCGL, University of Washington 0 0 2 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 0 0 0 0 0 3
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 2 1 0 0 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 2 0 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 1 0 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 1 0 0 0 0 0 2
Nilou-Genome Lab 0 0 1 0 1 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 0 1
Elsea Laboratory,Baylor College of Medicine 0 0 1 0 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 0 1
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 0 0 0 0 1 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 1 0 0 0 0 0 0 1
Kids Research, The Children's Hospital at Westmead 0 0 1 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 0 1
University of Iowa Renal Genetics Clinic,University of Iowa 0 0 0 1 0 0 0 1
Indian Institute of Integrative Medicine,Council of Scientific and Industrial Research 0 0 1 0 0 0 0 1
Center for Inherited Cardiovascular Diseases,IRCCS Fondazione Policlinico San Matteo 1 0 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 0 1
Biochemistry Metabolomics and Proteomics Laboratory,Necker Enfants Malades Hospital 0 1 0 0 0 0 0 1
Precision Medicine Center,Zhengzhou University 0 1 0 0 0 0 0 1

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