ClinVar Miner

Variants studied for Renal hypodysplasia/aplasia 3

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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
20 9 12 0 2 42

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
GREB1L 16 8 9 2 34
GREB1L, LOC101927521 4 1 3 0 8

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance benign total
OMIM 15 0 0 0 15
Baylor Genetics 0 1 2 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 1 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 2 0 2
Genome-Nilou Lab 0 0 0 2 2
Institute of Human Genetics, Cologne University 0 0 1 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 1
3billion 0 0 1 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 1
Eurofins-Biomnis 0 1 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 1 0 0 1

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