ClinVar Miner

Variants from DBGen Ocular Genomics with conflicting interpretations

Location: Spain  Primary collection method: clinical testing
Minimum review status of the submission from DBGen Ocular Genomics: Collection method of the submission from DBGen Ocular Genomics:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
296 51 0 17 0 0 8 25

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
DBGen Ocular Genomics pathogenic likely pathogenic uncertain significance
pathogenic 0 14 0
likely pathogenic 3 0 5
uncertain significance 0 3 0

Submitter to submitter summary #

Total submitters: 20
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
Fulgent Genetics, Fulgent Genetics 0 2 0 5 0 0 0 5
Baylor Genetics 0 12 0 2 0 0 1 3
Natera, Inc. 0 7 0 3 0 0 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 0 2 0 1 0 0 2 3
Genome-Nilou Lab 0 20 0 1 0 0 1 2
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 1 0 0 1 2
3billion 0 7 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 0 0 1 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 1 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 0 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1 1
Laboratory of Genetics in Ophthalmology, Institut Imagine 0 3 0 1 0 0 0 1
Mendelics 0 4 0 1 0 0 0 1
Molecular Genetics Laboratory, Institute for Ophthalmic Research 0 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 0 0 1 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 0 1
New York Genome Center 0 0 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 0 0 0 0 1 1
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 0 1 0 1 0 0 0 1
Revvity Omics, Revvity 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001297.5(CNGB1):c.2794+1G>A rs770011113 0.00009
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met) rs151057466 0.00009
NM_022124.6(CDH23):c.6050-15G>A rs373838930 0.00006
NM_152384.3(BBS5):c.143-1G>C rs1054138918 0.00004
NM_000223.4(KRT12):c.1181T>C (p.Leu394Pro) rs370179526 0.00003
NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter) rs933169926 0.00002
NM_172240.3(POC1B):c.101-3T>G rs750116711 0.00002
NM_001142800.2(EYS):c.4651G>T (p.Glu1551Ter) rs1305702728 0.00001
NM_206933.4(USH2A):c.4384A>C (p.Thr1462Pro) rs757315203 0.00001
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT rs1954226902
NM_000350.3(ABCA4):c.6308C>A (p.Pro2103His) rs2100994049
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter) rs201405662
NM_001029883.3(PCARE):c.2967del (p.Val990fs) rs1667476173
NM_001034853.2(RPGR):c.2586_2587del (p.Glu863fs) rs2067170858
NM_001034853.2(RPGR):c.3184G>T (p.Glu1062Ter) rs2147190626
NM_001142800.2(EYS):c.2023+5G>T rs1287889008
NM_001142800.2(EYS):c.6812_6813del (p.Thr2271fs) rs2149802267
NM_001298.3(CNGA3):c.1519del (p.Asp507fs) rs745592705
NM_006269.2(RP1):c.5564del (p.Lys1855fs) rs2129318266
NM_012193.4(FZD4):c.1501_1502del (p.Leu501fs) rs80358303
NM_025099.6(CTC1):c.248_251dup (p.His84fs) rs745467709
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611
NM_178857.6(RP1L1):c.5821C>T (p.Gln1941Ter) rs201017122
NM_206933.4(USH2A):c.4251+1del rs2102460236
NM_206933.4(USH2A):c.7415A>C (p.Gln2472Pro) rs2102470142

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