ClinVar Miner

Variants studied for Coats plus syndrome

Included ClinVar conditions (4):
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
27 19 70 23 30 159

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CTC1 23 17 62 21 27 140
CTC1, PFAS 1 2 5 1 0 9
STN1 2 0 3 1 3 9
POT1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genome-Nilou Lab 5 2 44 19 30 100
Fulgent Genetics, Fulgent Genetics 3 4 14 2 1 24
OMIM 16 0 0 0 0 16
Revvity Omics, Revvity 4 5 4 0 0 13
Baylor Genetics 3 1 5 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 4 0 0 0 9
Johns Hopkins Genomics, Johns Hopkins University 0 1 3 2 0 6
Mendelics 2 0 2 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 1 0 4
Godley laboratory, The University of Chicago 0 0 3 0 0 3
New York Genome Center 0 1 2 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 1 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
Illumina Laboratory Services, Illumina 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 1 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1
DBGen Ocular Genomics 1 0 0 0 0 1

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