ClinVar Miner

Variants studied for cerebral disease with cataract

Included ClinVar conditions (39):
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
343 173 654 184 133 1395

Gene and significance breakdown #

Total genes and gene combinations: 33
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NSD1 175 36 91 55 17 370
CEP290 56 21 108 26 29 216
CC2D2A 15 24 87 20 8 140
RPGRIP1L 12 3 72 15 12 108
MKS1 15 29 57 10 4 103
TMEM67 14 33 44 3 7 90
NPHP3, NPHP3-ACAD11 3 0 55 9 3 70
TCTN2 6 0 31 8 17 53
TMEM216 5 13 29 2 4 49
SIL1 11 0 23 7 7 44
TMEM231 7 1 7 6 6 26
B9D2 4 0 16 2 2 23
TCTN1 0 0 5 8 7 20
B9D1 3 1 9 4 4 19
NFIX 9 3 2 1 1 16
ATP6V0A2, TCTN2 0 0 1 6 2 9
B9D2, TMEM91 0 0 8 0 0 8
C12orf29, CEP290 0 0 5 1 0 6
CTDP1 1 0 0 0 3 4
KIF14 2 0 2 0 0 4
TMEM107 3 0 0 0 0 3
APC2 1 0 1 0 0 2
TXNDC15 0 2 0 0 0 2
CACNA1A, IER2, LYL1, NACC1, NFIX, STX10, TRMT1 1 0 0 0 0 1
CSPP1 0 1 0 0 0 1
EVC2 0 1 0 0 0 1
EXOC3L2 0 1 0 0 0 1
EXOC4, LOC101928861 0 1 0 0 0 1
FTO, RPGRIP1L 0 0 0 1 0 1
KIAA0586 0 1 0 0 0 1
SNORD118, TMEM107 0 0 1 0 0 1
TMEM138 0 1 0 0 0 1
TMEM237 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 1 1 442 110 35 589
Invitae 67 8 129 63 91 358
Genetic Services Laboratory, University of Chicago 161 31 34 0 0 226
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 82 0 0 0 83
Fulgent Genetics 20 5 47 0 0 72
Counsyl 2 30 32 5 0 69
OMIM 67 0 0 0 0 67
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 23 2 0 1 0 26
Center for Human Genetics, Inc 4 5 6 5 1 21
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 3 10 0 0 0 13
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 10 10
Baylor Miraca Genetics Laboratories, 7 0 2 0 0 9
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 6 7
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 2 2 1 0 6
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 0 1 0 0 3
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 3 0 0 0 3
Laboratoire de Cytogenetique,Hospices Civils de Lyon 2 1 0 0 0 3
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 3 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 1 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 1
Mendelics 1 0 0 0 0 1
GeneReviews 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
McKusick-Nathans Institute of Genetic Medicine,Johns Hopkins University 1 0 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 1 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 1 0 0 0 0 1

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