Variants studied for Cardiofaciocutaneous syndrome 4

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	not provided	total
9	7	72	10	12	1	105

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
MAP2K2	9	7	69	10	12	1	102
LOC130063193, MAP2K2	0	0	3	0	0	0	3

Submitter and significance breakdown #

Total submitters: 24

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	1	0	57	5	0	0	63
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	1	5	3	11	0	20
OMIM	5	0	0	0	0	0	5
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	0	5	0	0	0	5
Revvity Omics, Revvity	1	0	3	0	0	0	4
Baylor Genetics	0	0	3	0	0	0	3
Genome-Nilou Lab	0	0	0	0	3	0	3
3billion	1	1	0	1	0	0	3
Institute of Human Genetics, University of Goettingen	0	1	1	0	0	0	2
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	2	0	0	0	2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	2	0	2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	1	1	0	0	0	2
Mendelics	0	0	0	1	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	1	0	0	0	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	0	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	0	1
Undiagnosed Diseases Network, NIH	0	1	0	0	0	0	1
Yale Center for Mendelian Genomics, Yale University	0	1	0	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	1	0	0	0	0	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	1	0	0	1
GenomeConnect - CFC International	0	0	0	0	0	1	1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand	1	0	0	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	0	1
MVZ Medizinische Genetik Mainz	0	1	0	0	0	0	1

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