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:
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
292 111 0 54 0 0 8 61

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 36 2
likely pathogenic 18 0 5
uncertain significance 0 1 0

Submitter to submitter summary #

Total submitters: 28
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 42 0 9 0 0 3 12
Genome-Nilou Lab 0 26 0 7 0 0 0 7
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 5 0 2 0 0 1 3
Mendelics 0 8 0 2 0 0 1 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 3 0 0 0 3
3billion, Medical Genetics 0 7 0 3 0 0 0 3
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 2 0 0 0 2
Counsyl 0 2 0 2 0 0 0 2
OMIM 0 46 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Institute for Ophthalmic Research 0 3 0 1 0 0 0 1
GeneDx 0 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 3 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 4 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 8 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 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
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 2 0 1 0 0 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 3 0 1 0 0 0 1
DBGen Ocular Genomics 0 3 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 61
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
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 0.00011
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) rs774130993 0.00009
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_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668 0.00004
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) rs61751282 0.00004
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) rs61751277 0.00004
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_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_022787.4(NMNAT1):c.205A>G (p.Met69Val) rs372066126 0.00002
NM_000310.4(PPT1):c.3G>A (p.Met1Ile) rs386833645 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_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_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.715T>C (p.Cys239Arg) rs62637012
NM_014336.5(AIPL1):c.773G>C (p.Arg258Pro) rs751881283
NM_018116.4(MSTO1):c.220+5G>C
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.3988del (p.Glu1330fs) rs1057520152
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

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