ClinVar Miner

Variants studied for sclerocornea

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
19 4 58 64 60 205

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PXDN 17 4 55 64 60 200
C14orf39, SIX6 2 0 0 0 0 2
​intergenic 0 0 1 0 0 1
PXDN, TPO 0 0 1 0 0 1
RYR1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 5 0 49 64 53 171
Genome-Nilou Lab 0 0 0 0 12 12
Genetics Department, University Hospital of Toulouse 5 0 1 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 2 1 0 0 5
OMIM 4 0 0 0 0 4
Revvity Omics, Revvity 0 1 1 0 0 2
PreventionGenetics, part of Exact Sciences 0 0 2 0 0 2
Leeds Institute of Medical Research, University of Leeds 2 0 0 0 0 2
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 1
3billion 0 0 1 0 0 1
Rasad Genetic Department, Rasad Pathobiology and Genetic Laboratory 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1

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