ClinVar Miner

Variants studied for Dent disease type 2

Included ClinVar conditions (2):
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 not provided total
16 11 16 12 1 4 57

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OCRL 16 10 16 11 1 4 55
INPP5B 0 1 0 0 0 0 1
LOC113875008, OCRL 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 1 2 10 11 1 0 25
OMIM 5 0 0 0 0 0 5
Baylor Genetics 1 0 3 0 0 0 4
GeneReviews 2 0 0 0 0 2 4
Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria 4 0 0 0 0 0 4
Mendelics 2 1 0 0 0 0 3
UniProtKB/Swiss-Prot 0 0 0 0 0 3 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 0 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Pediatric Nephrology (Iijima Lab), Kobe University Graduate School of Medicine 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 1 0 0 0 0 1
3billion 0 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1

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