ClinVar Miner

Variants studied for Norrie disease

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 total
23 12 2 0 0 36

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
NDP 21 12 2 34
FZD4, PRSS23 1 0 0 1
TSPAN12 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 16 0 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 2
3billion 0 1 1 2
DBGen Ocular Genomics 1 1 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 1
Mendelics 1 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 0 0 1
Erez Levanon lab, Bar Ilan University 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 1 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 1
Molecular Medicine, University of Pavia 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 1

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