ClinVar Miner

Variants studied for cobblestone lissencephaly

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
166 150 742 55 31 3 1118

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FKTN 13 23 141 7 6 0 182
FKRP 22 6 81 4 5 0 116
POMT2 17 4 78 3 1 3 104
POMT1 20 6 63 4 8 0 101
POMGNT1, TSPAN1 7 70 23 3 1 0 99
DAG1 4 1 71 4 0 0 80
LARGE1 5 1 49 16 2 0 73
POMGNT2 5 2 61 2 2 0 72
CRPPA 24 6 34 3 4 0 71
GMPPB 12 5 33 2 2 0 53
B3GALNT2 12 9 31 4 0 0 50
RXYLT1 9 5 22 1 0 0 34
POMK 7 0 19 1 0 0 26
B4GAT1 2 1 23 0 0 0 25
POMGNT1 0 8 2 1 0 0 11
B3GALNT2, TBCE 1 1 7 0 0 0 9
LAMB1 4 2 3 0 0 0 9
ANKMY2, BZW2, CRPPA, LRRC72, SOSTDC1 1 0 0 0 0 0 1
FKTN, FSD1L 1 0 0 0 0 0 1
FNTA, HOOK3, MIR4469, POMK, RNF170, THAP1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 80 30 586 28 17 0 741
Illumina Clinical Services Laboratory,Illumina 0 0 102 21 2 0 125
Counsyl 6 70 30 3 0 0 109
OMIM 69 0 1 0 0 0 70
Fulgent Genetics,Fulgent Genetics 7 4 33 0 0 0 44
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 36 0 0 0 0 37
Baylor Genetics 6 1 5 1 0 0 13
Athena Diagnostics Inc 0 0 0 0 10 0 10
Mendelics 0 3 2 3 2 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 4 2 0 0 0 7
Integrated Genetics/Laboratory Corporation of America 3 2 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 3 1 0 0 0 0 4
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 4 0 0 0 0 4
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 3 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 1 0 0 0 0 2
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 2 0 2
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 2 0 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1

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