ClinVar Miner

Variants studied for Brain abnormalities, neurodegeneration, and dysosteosclerosis

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
8 2 7 0 6 23

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
CSF1R 8 2 7 5 22
CSF1R, LOC111188154 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance benign total
OMIM 7 0 0 0 7
Genome-Nilou Lab 0 0 0 6 6
Baylor Genetics 1 0 2 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 1

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