ClinVar Miner

Variants studied for developmental delay with short stature, dysmorphic facial features, and sparse hair

Included ClinVar conditions (3):
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 total
12 8 17 0 3 37

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
DPH1 9 6 16 3 31
DPH2, LOC126805726 3 1 0 0 4
DPH1, LOC130059901 0 0 1 0 1
DPH2 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance benign total
OMIM 9 0 0 0 9
Baylor Genetics 0 1 8 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 4 0 6
Revvity Omics, Revvity 0 2 2 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 3
Genome-Nilou Lab 0 0 0 3 3
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 1
3billion 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 1

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