ClinVar Miner

Variants studied for patterned macular dystrophy

Included ClinVar conditions (4):
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
25 21 151 21 20 1 236

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CTNNA1 6 9 95 9 3 1 123
PRPH2 18 12 55 12 17 0 111
MAPKAPK3 1 0 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 2 9 78 0 0 0 89
Illumina Laboratory Services, Illumina 0 0 52 12 17 0 81
Fulgent Genetics, Fulgent Genetics 1 0 26 7 0 0 34
OMIM 11 0 0 0 0 0 11
Mendelics 5 1 0 1 2 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 3 3 0 6
Genome-Nilou Lab 0 0 0 0 5 0 5
MGZ Medical Genetics Center 3 1 0 0 0 0 4
Institute of Medical Molecular Genetics, University of Zurich 0 4 0 0 0 0 4
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 1 1 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 1 0 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 0 0 0 1
Inherited Eye Disorders lab, UCL Institute of Ophthalmology 0 0 1 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1

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