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
364 53 10 18 0 0 4 30

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 10 15 1
likely pathogenic 3 0 3

Submitter to submitter summary #

Total submitters: 15
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
GeneReviews 0 0 10 0 0 0 0 10
Invitae 0 26 0 1 0 0 3 4
Ocular Genomics Institute, Massachusetts Eye and Ear 0 8 0 4 0 0 0 4
Broad Institute Rare Disease Group, Broad Institute 0 2 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 45 0 1 0 0 0 1
Baylor Genetics 0 1 0 1 0 0 0 1
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 0 0 1 0 0 0 1
Mendelics 0 6 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 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
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, Oman 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.1956+2T>A rs61749758
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000310.3(PPT1):c.3G>A (p.Met1Ile) rs386833645
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) rs774130993
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871
NM_001122769.3(LCA5):c.103C>T (p.Arg35Ter)
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg)
NM_014336.5(AIPL1):c.589G>C (p.Ala197Pro) rs62637010
NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg) rs62637012
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter) rs75895925
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter) rs80044281
NM_019098.4(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_020366.3(RPGRIP1):c.2367+23del rs781728563
NM_022787.4(NMNAT1):c.205A>G (p.Met69Val)
NM_022787.4(NMNAT1):c.532G>A (p.Val178Met)
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser) rs748902766
NM_022787.4(NMNAT1):c.542A>G (p.Tyr181Cys)
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys) rs28940313
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter) rs200387832
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) rs150412614
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748

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