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:

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
239 44 0 43 0 0 26 69

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 uncertain significance
pathogenic 0 27 0
likely pathogenic 16 0 1
uncertain significance 0 9 0
likely benign 0 10 0
benign 0 6 0

Submitter to submitter summary #

Total submitters: 26
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 8 0 11 0 0 1 12
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 15 0 8 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 10 0 6 0 0 1 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 7 0 6 0 0 0 6
GeneDx 0 1 0 3 0 0 0 3
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 3 0 0 0 3
SingHealth Duke-NUS Institute of Precision Medicine 0 2 0 3 0 0 0 3
Athena Diagnostics 0 0 0 2 0 0 0 2
Blueprint Genetics 0 10 0 2 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 11 0 2 0 0 0 2
Labcorp Genetics (formerly Invitae), Labcorp 0 4 0 2 0 0 0 2
Natera, Inc. 0 6 0 2 0 0 0 2
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 0 0 0 1 0 0 0 1
Dept Of Ophthalmology, Nagoya University 0 2 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 3 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 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
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 0 2 0 1 0 0 0 1
Laboratory of Genetics in Ophthalmology, Institut Imagine 0 0 0 0 0 0 1 1
Myriad Genetics, Inc. 0 0 0 1 0 0 0 1
OMIM 0 4 0 1 0 0 0 1
Rui Chen Lab, Baylor College of Medicine 0 0 0 1 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 9 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 69
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.4253+43G>A rs61754045 0.00486
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 0.00029
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_014855.3(AP5Z1):c.1033C>T (p.Arg345Ter) rs762066700 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280 0.00004
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) rs61750142 0.00003
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val) rs61748521 0.00003
NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp) rs104894492 0.00003
NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg) rs62636511 0.00002
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg) rs1472566324 0.00001
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.214G>A (p.Gly72Arg) rs61751412 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
NM_000554.6(CRX):c.205C>T (p.Arg69Cys) rs771551785 0.00001
NM_014855.3(AP5Z1):c.412C>T (p.Arg138Ter) rs778457903 0.00001
NM_014855.3(AP5Z1):c.931C>T (p.Arg311Ter) rs376075583 0.00001
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159 0.00001
NM_025114.4(CEP290):c.4705-1G>T rs777464278 0.00001
NM_201253.3(CRB1):c.2536G>A (p.Gly846Arg) rs539189291 0.00001
NM_206933.4(USH2A):c.14134-3169A>G rs998302546 0.00001
NM_206933.4(USH2A):c.907C>A (p.Arg303Ser) rs748465849 0.00001
NC_012920.1(MT-CYB):m.14743A>G rs527236161
NC_012920.1(MT-CYB):m.14783T>C rs193302982
NC_012920.1(MT-CYB):m.14891C>G rs386419981
NC_012920.1(MT-CYB):m.14905G>A rs193302983
NC_012920.1(MT-CYB):m.14974C>G rs527236168
NC_012920.1(MT-CYB):m.15001T>C rs527236169
NC_012920.1(MT-CYB):m.15043G>A rs193302985
NC_012920.1(MT-CYB):m.15061A>G rs527236205
NC_012920.1(MT-CYB):m.15148G>A rs527236206
NC_012920.1(MT-CYB):m.15226A>G rs527236174
NC_012920.1(MT-CYB):m.15289T>C rs527236175
NC_012920.1(MT-CYB):m.15301G>A rs193302991
NC_012920.1(MT-CYB):m.15346G>A rs527236180
NC_012920.1(MT-CYB):m.15349C>A rs527236201
NC_012920.1(MT-CYB):m.15355G>A rs527236181
NC_012920.1(MT-CYB):m.15385C>T rs527236183
NC_012920.1(MT-CYB):m.15553G>A rs527236189
NC_012920.1(MT-CYB):m.15607A>G rs193302996
NC_012920.1(MT-CYB):m.15670T>C rs193302997
NC_012920.1(MT-CYB):m.15784T>C rs527236194
NC_012920.1(MT-TE):m.14732A>G rs527236202
NC_012920.1(MT-TT):m.15890C>A rs527236196
NC_012920.1(MT-TT):m.15932T>G rs527236199
NM_000180.4(GUCY2D):c.740A>G (p.His247Arg) rs768206746
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg) rs751769391
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_000330.4(RS1):c.461A>G (p.Gln154Arg) rs2147191205
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000539.3(RHO):c.448G>A (p.Glu150Lys) rs104893791
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly) rs752997229
NM_014855.3(AP5Z1):c.1836_1839dup (p.Leu614fs)
NM_014855.3(AP5Z1):c.80_83delinsTGCTGTAAACTGTAACTGTAAA (p.Arg27_Ile28delinsLeuLeuTer) rs397704705
NM_015629.4(PRPF31):c.1165C>T (p.Gln389Ter) rs2146449862
NM_152443.3(RDH12):c.505C>T (p.Arg169Trp) rs761167763
NM_201253.3(CRB1):c.1244T>A (p.Leu415Ter) rs760419335

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.