ClinVar Miner

Variants in gene RIMS1

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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 not provided total
3 3 685 399 98 1 1137

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 2 1 602 376 74 1 1038
Cone-rod dystrophy 7 0 1 68 21 51 0 141
Inborn genetic diseases 0 0 42 1 0 0 43
not specified 0 0 1 2 15 0 18
RIMS1-related condition 0 0 2 15 0 0 17
Cone-Rod Dystrophy, Dominant 0 0 8 2 2 0 12
Retinal dystrophy 0 0 12 0 0 0 12
Retinitis pigmentosa 0 0 2 0 0 0 2
Autism spectrum disorder 0 1 0 0 0 0 1
Leber congenital amaurosis 0 0 1 0 0 0 1
Long QT syndrome 0 0 1 0 0 0 1
Ornithine aminotransferase deficiency 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1 0 581 371 57 0 1010
Illumina Laboratory Services, Illumina 0 0 66 23 53 0 142
Ambry Genetics 0 0 42 1 0 0 43
PreventionGenetics, part of Exact Sciences 0 0 2 16 9 0 27
GeneDx 0 0 3 2 17 0 22
CeGaT Center for Human Genetics Tuebingen 1 1 8 6 4 0 20
Eurofins Ntd Llc (ga) 0 0 11 1 3 0 15
Blueprint Genetics 0 0 12 0 0 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 6 1 0 9
Clinical Genetics, Academic Medical Center 0 0 1 2 5 0 8
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 6 0 6
Revvity Omics, Revvity 0 0 4 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Baylor Genetics 0 0 2 0 0 0 2
DBGen Ocular Genomics 0 0 2 0 0 0 2
OMIM 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Institute for Ophthalmic Research 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Medical Research Institute, Tokyo Medical and Dental University 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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