ClinVar Miner

Variants studied for Intellectual disability, autosomal recessive 66

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 11 4 0 0 19

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
FERRY3 6 8 2 14
C12orf4 0 3 0 3
ANK3 0 0 2 2

Submitter and significance breakdown #

Total submitters: 14
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance total
Revvity Omics, Revvity 0 3 1 4
OMIM 3 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 2
Johns Hopkins Genomics, Johns Hopkins University 0 2 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 2
3billion 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 1
Variantyx, Inc. 0 1 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.