ClinVar Miner

Variants studied for Macrocephaly, acquired, with impaired intellectual development

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
11 10 17 0 0 35

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
NFIB 11 10 17 35

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 7 0 0 7
Revvity Omics, Revvity Omics 0 2 3 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 3 5
SIB Swiss Institute of Bioinformatics 1 3 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 3
New York Genome Center 0 0 3 3
MGZ Medical Genetics Center 0 2 0 2
3billion 1 0 1 2
Centogene AG - the Rare Disease Company 0 0 1 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 1
Illumina Laboratory Services, Illumina 0 1 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 0 0 1

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