ClinVar Miner

Variants studied for Primrose syndrome

Coded as:
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
27 18 16 5 0 1 65

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
ZBTB20 27 18 16 5 1 65

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
OMIM 11 0 0 0 0 11
Reparto di Fisiopatologia delle Malattie Genetiche, Dipartimento di Ematologia, Oncologia; Istituto Superiore di Sanità 8 0 0 0 0 8
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 7 0 0 0 0 7
Baylor Genetics 0 0 5 0 0 5
Mendelics 1 1 0 2 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 1 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 3
3billion, Medical Genetics 0 2 0 1 0 3
Revvity Omics, Revvity 0 0 2 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 1 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 2
New York Genome Center 0 1 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 1
Rare Disease Institute, Children's National Hospital 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 1

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