ClinVar Miner

Variants studied for Retinitis pigmentosa 43

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
23 10 15 1 8 53

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PDE6A 23 10 15 1 8 53

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 2 2 7 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 1 6 9
Ocular Genomics Institute, Massachusetts Eye and Ear 3 4 2 0 0 9
OMIM 8 0 0 0 0 8
DBGen Ocular Genomics 4 1 1 0 0 6
Revvity Omics, Revvity Omics 1 2 0 0 0 3
Mendelics 3 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 0 3
MGZ Medical Genetics Center 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1

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