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
14 3 18 3 0 38

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 total
CTC1 14 3 17 3 37
CTC1, PFAS 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
OMIM 13 0 0 0 13
Fulgent Genetics,Fulgent Genetics 0 1 5 0 6
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 2 5
Baylor Genetics 0 0 3 0 3
Godley laboratory, The University of Chicago 0 0 3 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 2
Mendelics 0 0 2 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 1 0 0 2
Illumina Clinical Services Laboratory,Illumina 1 1 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 0 1 0 1

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