ClinVar Miner

Variants from Laboratory of Genetics in Ophthalmology, Institut Imagine with conflicting interpretations

Location: France  Primary collection method: research
Minimum review status of the submission from Laboratory of Genetics in Ophthalmology, Institut Imagine: Collection method of the submission from Laboratory of Genetics in Ophthalmology, Institut Imagine:
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
287 113 0 58 0 0 7 64

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
Laboratory of Genetics in Ophthalmology, Institut Imagine pathogenic likely pathogenic uncertain significance
pathogenic 0 39 1
likely pathogenic 19 0 5
uncertain significance 0 1 0

Submitter to submitter summary #

Total submitters: 31
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
Baylor Genetics 0 53 0 16 0 0 1 17
Labcorp Genetics (formerly Invitae), Labcorp 0 43 0 10 0 0 2 12
Genome-Nilou Lab 0 26 0 7 0 0 0 7
3billion 0 15 0 5 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 16 0 4 0 0 0 4
Ocular Genomics Institute, Massachusetts Eye and Ear 0 8 0 4 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 6 0 3 0 0 1 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 3 0 0 0 3
Mendelics 0 8 0 2 0 0 1 3
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 3 0 0 0 3
Counsyl 0 2 0 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 8 0 2 0 0 0 2
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 2 0 0 0 2
DBGen Ocular Genomics 0 3 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 0 1 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 0 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 2 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 0 1
GeneDx 0 0 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 1 0 0 0 1
MGZ Medical Genetics Center 0 3 0 1 0 0 0 1
Molecular Genetics Laboratory, Institute for Ophthalmic Research 0 3 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 3 0 1 0 0 0 1
OMIM 0 46 0 1 0 0 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 0 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 1 0 1 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 4 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 64
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175 0.00077
NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr) rs138613460 0.00057
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly) rs771336246 0.00010
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) rs774130993 0.00008
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340 0.00007
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315 0.00004
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668 0.00003
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) rs61751277 0.00003
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn) rs61752905 0.00003
NM_001298.3(CNGA3):c.572G>A (p.Cys191Tyr) rs761554853 0.00003
NM_001298.3(CNGA3):c.67C>T (p.Arg23Ter) rs777509481 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_201253.3(CRB1):c.2291G>A (p.Arg764His) rs375040930 0.00003
NM_201253.3(CRB1):c.3988del (p.Glu1330fs) rs1057520152 0.00002
NM_000310.4(PPT1):c.3G>A (p.Met1Ile) rs386833645 0.00001
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) rs61751282 0.00001
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) rs61752883 0.00001
NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu) rs796052338 0.00001
NM_001122769.3(LCA5):c.103C>T (p.Arg35Ter) rs748370008 0.00001
NM_001298.3(CNGA3):c.1114C>T (p.Pro372Ser) rs1464167194 0.00001
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg) rs201883601 0.00001
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter) rs75895925 0.00001
NM_022787.4(NMNAT1):c.205A>G (p.Met69Val) rs372066126 0.00001
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser) rs748902766 0.00001
NM_022787.4(NMNAT1):c.542A>G (p.Tyr181Cys) rs748913297 0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) rs121434337 0.00001
NM_152443.3(RDH12):c.619A>G (p.Asn207Asp) rs745871149 0.00001
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys) rs28940313 0.00001
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys) rs1271816211 0.00001
NM_201253.3(CRB1):c.2842+5G>A rs773914330 0.00001
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro) rs62636276 0.00001
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.1956+2T>A rs61749758
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000180.4(GUCY2D):c.740A>G (p.His247Arg) rs768206746
NM_000310.4(PPT1):c.733G>A (p.Gly245Arg) rs1259755308
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val) rs1193631220
NM_000329.3(RPE65):c.246-11A>G rs905365719
NM_001122769.3(LCA5):c.744_750del (p.Ser249fs) rs1769904494
NM_001122769.3(LCA5):c.858+1G>C rs753594556
NM_001298.3(CNGA3):c.902_903delinsAA (p.Phe301Ter) rs1692904914
NM_006269.2(RP1):c.5564del (p.Lys1855fs) rs2129318266
NM_014336.5(AIPL1):c.466-1G>C rs1567637467
NM_014336.5(AIPL1):c.773G>C (p.Arg258Pro) rs751881283
NM_018116.4(MSTO1):c.220+5G>C rs1187504822
NM_020366.4(RPGRIP1):c.2367+23del rs781728563
NM_022787.4(NMNAT1):c.752A>C (p.His251Pro) rs1208495291
NM_152443.3(RDH12):c.152T>A (p.Ile51Asn) rs104894473
NM_152443.3(RDH12):c.659-2A>T rs2038231425
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter) rs200387832
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) rs150412614
NM_201253.3(CRB1):c.2234C>A (p.Thr745Lys) rs28939720
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val) rs369184026
NM_201253.3(CRB1):c.3153G>A (p.Trp1051Ter) rs1249210332
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu) rs1667264651
NM_201253.3(CRB1):c.506del (p.Gly169fs) rs1167867158
NM_201253.3(CRB1):c.653-1G>A rs760287363

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.