ClinVar Miner

Variants from Ocular Genomics Institute, Massachusetts Eye and Ear with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from Ocular Genomics Institute, Massachusetts Eye and Ear: Collection method of the submission from Ocular Genomics Institute, Massachusetts Eye and Ear:
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
377 79 8 47 0 0 18 70

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
Ocular Genomics Institute, Massachusetts Eye and Ear pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 8 20 4 0 0
likely pathogenic 25 0 9 0 0
uncertain significance 1 4 0 0 0
likely benign 0 0 0 0 1
benign 0 0 0 1 0

Submitter to submitter summary #

Total submitters: 27
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
OMIM 0 34 0 9 0 0 0 9
GeneReviews 0 0 8 0 0 0 0 8
Counsyl 0 23 0 6 0 0 1 7
Invitae 0 8 0 5 0 0 2 7
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 0 8 0 4 0 0 3 7
Human Genetics - Radboudumc,Radboudumc 0 11 0 2 0 0 2 4
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 4 0 0 0 4
Broad Institute Rare Disease Group, Broad Institute 0 3 0 1 0 0 3 4
Laboratory of Genetics in Ophthalmology,Institut Imagine 0 8 0 4 0 0 0 4
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 2 0 3 0 0 0 3
GeneDx 0 3 0 0 0 0 3 3
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 3 0 0 0 3
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 11 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 2 0 0 1 3
Baylor Genetics 0 4 0 1 0 0 1 2
Mendelics 0 9 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 6 0 1 0 0 1 2
Sharon lab,Hadassah-Hebrew University Medical Center 0 5 0 1 0 0 1 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 4 0 1 0 0 0 1
Sema4,Sema4 0 0 0 1 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 15 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 0 0 0 0 1 1
Reproductive Health Research and Development,BGI Genomics 0 3 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 70
Download table as spreadsheet
HGVS dbSNP
NM_000086.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473
NM_000087.3(CNGA1):c.959C>T rs62625014
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000283.3(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981
NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro) rs121918563
NM_000329.3(RPE65):c.11+5G>A rs61751276
NM_000330.3(RS1):c.304C>T (p.Arg102Trp) rs61752067
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile) rs61752398
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402
NM_000350.3(ABCA4):c.4539+2028C>T rs869320785
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp) rs121909205
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.5714+5G>A rs61751407
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566
NM_000539.3(RHO):c.316G>A (p.Gly106Arg) rs104893773
NM_000539.3(RHO):c.509C>G (p.Pro170Arg) rs1553781176
NM_000539.3(RHO):c.512C>T (p.Pro171Leu)
NM_000539.3(RHO):c.538C>A (p.Pro180Thr) rs1560046837
NM_000539.3(RHO):c.789CTG[1] (p.Cys264del) rs121918590
NM_001122769.3(LCA5):c.103C>T (p.Arg35Ter)
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) rs780163791
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter) rs1471994744
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272
NM_001142800.2(EYS):c.3443+1G>T rs373441420
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs) rs750840208
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs) rs763028732
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) rs528919874
NM_001145291.1(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_001166114.2(PNPLA6):c.3518G>A (p.Arg1173Gln) rs1057517802
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) rs267606821
NM_014249.4(NR2E3):c.119-2A>C rs2723341
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg)
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014
NM_015120.4(ALMS1):c.712G>T (p.Glu238Ter) rs989080548
NM_015629.4(PRPF31):c.527+3A>G rs587776590
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter) rs80044281
NM_018474.6(KIZ):c.226C>T (p.Arg76Ter) rs202210819
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_019892.6(INPP5E):c.1456C>T (p.Arg486Cys) rs75939033
NM_019892.6(INPP5E):c.1787G>C (p.Arg596Thr) rs765327224
NM_022787.4(NMNAT1):c.634G>A (p.Val212Met)
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756
NM_025114.4(CEP290):c.2991+1655A>G rs281865192
NM_025114.4(CEP290):c.4438-3del rs747323414
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr)
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_152443.3(RDH12):c.215A>G (p.Asp72Gly) rs1594865341
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln) rs971610277
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_177972.3(TUB):c.1215+1G>A rs1589996458
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491
NM_207352.4(CYP4V2):c.1091-2A>G rs199476183
NM_207352.4(CYP4V2):c.802-8_810delinsGC rs207482233

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