ClinVar Miner

Variants studied for Lethal congenital contracture syndrome 11

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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
10 15 5 0 1 28

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
GLDN 10 15 5 1 28

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance benign total
OMIM 6 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 1 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 2 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 0 0 2
Baylor Genetics 0 0 1 0 1
Revvity Omics, Revvity 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 1
Genome-Nilou Lab 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 1 0 0 1

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