ClinVar Miner

Variants studied for Posterior column ataxia-retinitis pigmentosa syndrome

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 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
Revvity Omics, Revvity 1 1 1 0 0 0 3
Mendelics 1 1 0 0 1 0 3
Fulgent Genetics, Fulgent Genetics 0 0 2 1 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Baylor Genetics 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 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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