ClinVar Miner

Variants studied for cerebroretinal microangiopathy with calcifications and cysts 1

Included ClinVar conditions (2):
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
24 18 68 22 27 151

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 total
CTC1 23 16 63 21 27 142
CTC1, PFAS 1 2 5 1 0 9

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 27 97
Fulgent Genetics, Fulgent Genetics 3 4 13 1 1 22
OMIM 13 0 0 0 0 13
Revvity Omics, Revvity 4 5 3 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 2 0 0 0 9
Baylor Genetics 3 1 4 0 0 8
Johns Hopkins Genomics, Johns Hopkins University 0 1 3 2 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 2 3 0 0 5
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
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1
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
DBGen Ocular Genomics 1 0 0 0 0 1

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