ClinVar Miner

Variants studied for Posterior column ataxia-retinitis pigmentosa syndrome

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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 not provided total
12 7 137 14 64 1 231

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FLVCR1 12 7 95 9 47 1 167
FLVCR2 0 0 37 5 16 0 58
FLVCR1, LOC129932486 0 0 4 0 1 0 5
FLVCR1, LOC129932485 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 1 130 13 61 0 204
OMIM 9 0 0 0 0 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 6 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
Fulgent Genetics, Fulgent Genetics 0 0 2 1 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Mendelics 1 1 0 0 1 0 3
Revvity Omics, Revvity 1 1 1 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 0 1 0 0 0 0 1

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