ClinVar Miner

Variants studied for macular dystrophy, retinal

Included ClinVar conditions (9):
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
10 6 96 14 16 4 144

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PROM1 4 6 95 14 16 3 136
LOC111365204, PRDM13 4 0 0 0 0 0 4
PRDM13 0 0 1 0 0 1 2
CLEC3B 1 0 0 0 0 0 1
LOC111365204 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 85 14 14 0 113
Fulgent Genetics, Fulgent Genetics 2 0 8 0 1 0 11
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 5 0 0 0 7
OMIM 6 0 0 0 0 0 6
Genome-Nilou Lab 0 0 0 0 5 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 0 0 0 0 3
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 1
Inherited Eye Disorders lab, UCL Institute of Ophthalmology 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 1 0 0 0 0 0 1
DBGen Ocular Genomics 0 0 1 0 0 0 1

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