ClinVar Miner

Variants studied for FLVCR1-related retinopathy with or without ataxia

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
13 9 126 12 61 1 219

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 13 9 84 7 44 1 155
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: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 1 117 11 58 0 187
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
Revvity Omics, Revvity 2 1 2 0 0 0 5
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
Baylor Genetics 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Next Generation Genetic Polyclinic 0 1 1 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
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
Variantyx, Inc. 1 0 0 0 0 0 1

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