ClinVar Miner

Variants studied for Cardiospondylocarpofacial syndrome

Coded as:
Minimum submission review status: Collection method:
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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
6 3 5 0 0 13

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
MAP3K7 6 3 5 13

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 5 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 2
Baylor Genetics 0 0 1 1
Mendelics 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 1
Pediatric Genomics Discovery Program, Yale University 0 1 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 1
Division of Biology and Genetics, University of Brescia 1 0 0 1

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