ClinVar Miner

Variants studied for Meckel syndrome, type 4

Included ClinVar conditions (7):
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
69 52 258 62 11 2 440

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CEP290 63 46 251 61 11 2 420
CEP290, RLIG1 3 6 6 0 0 0 15
CEP290, LOC129390514 1 0 1 1 0 0 3
TMEM218 2 0 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 50 31 146 54 0 0 281
Illumina Laboratory Services, Illumina 0 0 117 8 5 0 130
New York Genome Center 1 1 19 0 0 0 21
Genome-Nilou Lab 0 0 10 0 6 0 16
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 12 0 0 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 4 0 0 0 0 11
OMIM 4 0 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 2 0 0 0 0 3
Suma Genomics 2 0 1 0 0 0 3
MGZ Medical Genetics Center 1 0 0 1 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
UW Hindbrain Malformation Research Program, University of Washington 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
3billion 2 0 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 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
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 0 1

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