ClinVar Miner

Variants studied for Donnai-Barrow syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
21 64 907 219 118 20 1247

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LRP2 21 64 906 219 118 20 1246
LMBRD1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 3 44 662 137 15 0 861
Illumina Laboratory Services, Illumina 0 0 237 46 85 0 368
Genome-Nilou Lab 0 0 39 48 106 0 193
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 17 6 0 0 23
New York Genome Center 0 0 17 0 0 0 17
Revvity Omics, Revvity 0 1 16 0 0 0 17
Baylor Genetics 0 0 12 1 0 0 13
GeneReviews 0 0 0 0 0 12 12
Daryl Scott Lab, Baylor College of Medicine 0 1 9 0 0 0 10
OMIM 10 0 0 0 0 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 6 1 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 0 0 8 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 4 0 0 0 0 6
Yale Center for Mendelian Genomics, Yale University 0 6 0 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 1 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 1 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Institute of Human Genetics, Cologne University 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 2 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 0 2
3billion 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Laboratory of Dr. Barbara Vona, University Medical Center Göttingen 1 0 0 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Myriad Genetics, Inc. 0 1 0 0 0 0 1
Otogenetics 0 1 0 0 0 0 1

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