Variants studied for cardiospondylocarpofacial syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
6	4	5	0	0	14

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	4	5	14

Submitter and significance breakdown #

Total submitters: 11

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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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	1	0	1
Division of Biology and Genetics, University of Brescia	1	0	0	1

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