ClinVar Miner

Variants studied for RDH12-related recessive retinopathy

Included ClinVar conditions (2):
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
96 63 146 243 8 3 521

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
GPHN, RDH12 63 41 95 163 5 2 346
GPHN, RDH12, ZFYVE26 33 21 48 80 3 1 171
RDH12 0 1 2 0 0 0 3
ARG2, ATP6V1D, EIF2S1, FUT8, GARIN2, GPHN, PALS1, PIGH, PLEK2, PLEKHH1, RAD51B, RDH11, RDH12, TMEM229B, VTI1B, ZFYVE26 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 84 18 139 243 6 0 490
Baylor Genetics 36 27 0 0 0 0 63
Laboratory of Genetics in Ophthalmology, Institut Imagine 21 6 0 0 0 0 27
OMIM 16 0 0 0 0 0 16
Ocular Genomics Institute, Massachusetts Eye and Ear 4 6 2 0 0 0 12
Mendelics 5 5 0 0 0 0 10
Fulgent Genetics, Fulgent Genetics 4 2 4 0 0 0 10
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 3 2 0 0 0 6
Genome-Nilou Lab 1 0 2 0 3 0 6
3billion 1 3 2 0 0 0 6
Revvity Omics, Revvity 2 2 0 0 0 0 4
MGZ Medical Genetics Center 1 1 1 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 1 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
DBGen Ocular Genomics 1 0 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
GeneReviews 0 0 0 0 0 1 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 0 0 1 0 0 0 1
Pangenia Genomics, Pangenia Inc. 0 0 1 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1

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