ClinVar Miner

Variants in gene RIMS1

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
6 2 281 97 69 427

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 2 1 203 79 31 310
Cone-rod dystrophy 7 3 1 66 21 52 142
not specified 0 0 1 2 10 13
Cone-Rod Dystrophy, Dominant 0 0 8 2 2 12
Retinal dystrophy 0 0 12 0 0 12
See cases 1 0 1 0 0 2
Leber congenital amaurosis 0 0 1 0 0 1
Long QT syndrome 0 0 1 0 0 1
Ornithine aminotransferase deficiency 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 0 185 79 19 284
Illumina Clinical Services Laboratory,Illumina 0 0 68 23 54 145
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 11 1 3 15
Blueprint Genetics 0 0 12 0 0 12
GeneDx 0 0 4 0 6 10
PreventionGenetics, PreventionGenetics 0 0 0 1 9 10
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 6 6
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 2 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 4 0 0 4
Baylor Genetics 2 0 1 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 3
OMIM 1 0 0 0 0 1
Molecular Genetics Laboratory,Institute for Ophthalmic Research 1 0 0 0 0 1
Molecular Diagnostics Laboratory,Seoul National University Hospital 0 0 1 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 1
Mendelics 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
ISCA site 8 1 0 0 0 0 1
Medical Research Institute,Tokyo Medical and Dental University 0 0 1 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1

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