ClinVar Miner

Variants from Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel with conflicting interpretations

Location: Switzerland  Primary collection method: research
Minimum review status of the submission from Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel: Collection method of the submission from Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

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
112 27 0 20 0 0 25 45

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
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel pathogenic likely pathogenic
pathogenic 0 17
likely pathogenic 3 0
uncertain significance 0 9
likely benign 0 10
benign 0 6

Submitter to submitter summary #

Total submitters: 12
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
Department of Zoology Govt. MVM College 0 0 0 0 0 0 23 23
NIHR Bioresource Rare Diseases, University of Cambridge 0 6 0 11 0 0 1 12
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 7 0 6 0 0 0 6
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 3 0 0 0 3
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 2 0 3 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 11 0 2 0 0 0 2
OMIM 0 4 0 1 0 0 0 1
Natera, Inc. 0 7 0 1 0 0 0 1
Rui Chen Lab, Baylor College of Medicine 0 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 1 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 9 0 1 0 0 0 1
Laboratory of Genetics in Ophthalmology, Institut Imagine 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 45
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 0.00008
NM_004928.3(CFAP410):c.33_34insAGCTGCACAGCGTGCA (p.Ala12fs) rs748531024 0.00008
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) rs61750142 0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_000274.4(OAT):c.1058G>A (p.Gly353Asp) rs121965053 0.00001
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909 0.00001
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys) rs61749459 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596 0.00001
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NC_012920.1:m.14732A>G rs527236202
NC_012920.1:m.14743A>G rs527236161
NC_012920.1:m.14891C>G rs386419981
NC_012920.1:m.14905G>A rs193302983
NC_012920.1:m.14974C>G rs527236168
NC_012920.1:m.15001T>C rs527236169
NC_012920.1:m.15061A>G rs527236205
NC_012920.1:m.15148G>A rs527236206
NC_012920.1:m.15226A>G rs527236174
NC_012920.1:m.15289T>C rs527236175
NC_012920.1:m.15346G>A rs527236180
NC_012920.1:m.15349C>A rs527236201
NC_012920.1:m.15355G>A rs527236181
NC_012920.1:m.15385C>T rs527236183
NC_012920.1:m.15553G>A rs527236189
NC_012920.1:m.15607A>G rs193302996
NC_012920.1:m.15670T>C rs193302997
NC_012920.1:m.15784T>C rs527236194
NC_012920.1:m.15890C>A rs527236196
NC_012920.1:m.15932T>G rs527236199
NM_000180.4(GUCY2D):c.740A>G (p.His247Arg) rs768206746
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly) rs752997229
NM_015629.4(PRPF31):c.1165C>T (p.Gln389Ter) rs2146449862
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
m.14783T>C rs193302982
m.15043G>A rs193302985
m.15301G>A rs193302991

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