ClinVar Miner

Variants studied for Donnai-Barrow syndrome

Included ClinVar conditions (1):
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
15 18 482 212 119 16 769

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 15 18 481 212 119 16 768
LMBRD1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 254 49 87 0 390
Fulgent Genetics, Fulgent Genetics 0 6 228 127 15 0 376
Genome-Nilou Lab 0 0 39 48 106 0 193
Revvity Omics, Revvity 0 1 12 0 0 0 13
Baylor Genetics 0 0 11 1 0 0 12
GeneReviews 0 0 0 0 0 12 12
OMIM 10 0 0 0 0 0 10
New York Genome Center 0 0 10 0 0 0 10
Daryl Scott Lab, Baylor College of Medicine 0 1 6 0 0 0 7
Yale Center for Mendelian Genomics, Yale University 0 6 0 0 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 5 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 1 0 3
Institute of Human Genetics, Cologne University 2 0 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 2 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 2 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 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
3billion 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 0 1

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