ClinVar Miner

Variants studied for Meckel syndrome, type 4

Coded as:
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
15 17 117 8 5 159

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CEP290 13 17 112 8 5 152
C12orf29, CEP290 0 0 5 0 0 5
TMEM218 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 117 8 5 130
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 12 0 0 0 12
OMIM 4 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 3
Kasturba Medical College, Manipal University 1 2 0 0 0 3
UW Hindbrain Malformation Research Program,University of Washington 2 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 1 0 0 0 1

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