ClinVar Miner

Variants studied for Retinitis pigmentosa 33

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
4 4 13 8 6 35

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
SNRNP200 4 4 13 8 5 34
LOC126806272, SNRNP200 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 1 4 3 9
Fulgent Genetics, Fulgent Genetics 0 0 1 5 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 4
OMIM 3 0 0 0 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 1 1 1 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Revvity Omics, Revvity Omics 0 0 2 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 1
3billion 0 0 1 0 0 1
DBGen Ocular Genomics 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 1
Pangenia Genomics, Pangenia Inc. 0 0 1 0 0 1

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