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
244 154 3 98 1 0 41 140

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 3 30 1 0 0
likely pathogenic 66 0 15 0 0
uncertain significance 5 20 0 0 0
likely benign 0 0 1 0 1
benign 0 0 0 1 0

Submitter to submitter summary #

Total submitters: 50
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 59 0 38 0 0 15 53
Fulgent Genetics, Fulgent Genetics 0 46 0 18 0 0 4 22
OMIM 0 35 0 15 0 0 0 15
Labcorp Genetics (formerly Invitae), Labcorp 0 13 0 7 0 0 3 10
Counsyl 0 21 0 6 0 0 1 7
Genome-Nilou Lab 0 63 0 6 1 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 10 0 2 0 0 4 6
3billion, Medical Genetics 0 15 0 5 0 0 1 6
GeneDx 0 5 0 0 0 0 5 5
MGZ Medical Genetics Center 0 6 0 4 0 0 1 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 3 0 1 0 0 4 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 14 0 5 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 0 3 0 0 1 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 11 0 2 0 0 2 4
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 4 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 8 0 4 0 0 0 4
Laboratory of Genetics in Ophthalmology, Institut Imagine 0 8 0 4 0 0 0 4
Genomics England Pilot Project, Genomics England 0 10 0 2 0 0 2 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 0 3 0 0 0 3
Revvity Omics, Revvity 0 19 0 2 0 0 1 3
PreventionGenetics, part of Exact Sciences 0 3 0 1 0 0 2 3
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 3 0 0 0 3
Natera, Inc. 0 17 0 1 0 0 2 3
Mendelics 0 11 0 3 0 0 0 3
GeneReviews 0 5 3 0 0 0 0 3
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 11 0 3 0 0 0 3
DBGen Ocular Genomics 0 2 0 1 0 0 2 3
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 8 0 2 0 0 0 2
CeGaT Center for Human Genetics Tuebingen 0 1 0 1 0 0 1 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 5 0 1 0 0 1 2
Genetics and Molecular Pathology, SA Pathology 0 5 0 1 0 0 1 2
Sharon lab, Hadassah-Hebrew University Medical Center 0 5 0 1 0 0 1 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 4 0 2 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 4 0 1 0 0 0 1
Sema4, Sema4 0 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 0 1 0 0 0 1
Blueprint Genetics 0 4 0 0 0 0 1 1
Illumina Laboratory Services, 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
Institute of Human Genetics, University Hospital Muenster 0 1 0 1 0 0 0 1
New York Genome Center 0 2 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 3 0 1 0 0 0 1
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 0 7 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 140
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756 0.03206
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862 0.00276
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00066
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_001142800.2(EYS):c.3443+1G>T rs373441420 0.00022
NM_201253.3(CRB1):c.2462C>T (p.Thr821Met) rs142857810 0.00019
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152 0.00016
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) rs139444207 0.00015
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) rs780163791 0.00013
NM_152443.3(RDH12):c.701G>A (p.Arg234His) rs750636662 0.00010
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe) rs142095945 0.00009
NM_206933.4(USH2A):c.2167+5G>A rs771583281 0.00009
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met) rs151057466 0.00007
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402 0.00006
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter) rs760798455 0.00006
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) rs772888249 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe) rs550485638 0.00005
NM_207352.4(CYP4V2):c.1091-2A>G rs199476183 0.00005
NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter) rs146591309 0.00004
NM_019892.6(INPP5E):c.1456C>T (p.Arg486Cys) rs75939033 0.00004
NM_022787.4(NMNAT1):c.634G>A (p.Val212Met) rs201994921 0.00004
NM_025114.4(CEP290):c.4438-3del rs747323414 0.00004
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681 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_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00004
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys) rs1015857165 0.00003
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs) rs763028732 0.00003
NM_004183.4(BEST1):c.37C>T (p.Arg13Cys) rs886041141 0.00003
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) rs267606821 0.00003
NM_014336.5(AIPL1):c.190G>A (p.Gly64Arg) rs776024427 0.00003
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr) rs761231974 0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174 0.00003
NM_201548.5(CERKL):c.222del (p.Gln74fs) rs1476585944 0.00003
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491 0.00003
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276 0.00003
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_000539.3(RHO):c.316G>A (p.Gly106Arg) rs104893773 0.00002
NM_001142800.2(EYS):c.-448+5G>A rs1175129177 0.00002
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu) rs74419361 0.00002
NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter) rs933169926 0.00002
NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys) rs375909217 0.00002
NM_019892.6(INPP5E):c.1760del (p.Val587fs) rs775518991 0.00002
NM_206933.4(USH2A):c.14792-2A>G rs137853923 0.00002
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys) rs201529124 0.00002
NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro) rs121918563 0.00001
NM_000330.4(RS1):c.304C>T (p.Arg102Trp) rs61752067 0.00001
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile) rs61752398 0.00001
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_001122769.3(LCA5):c.103C>T (p.Arg35Ter) rs748370008 0.00001
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter) rs1471994744 0.00001
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089 0.00001
NM_001142800.2(EYS):c.6571+1G>A rs1193854376 0.00001
NM_001142800.2(EYS):c.9061G>C (p.Ala3021Pro) rs569561277 0.00001
NM_001166114.2(PNPLA6):c.3518G>A (p.Arg1173Gln) rs1057517802 0.00001
NM_001297.5(CNGB1):c.2293C>T (p.Arg765Cys) rs771833874 0.00001
NM_001330691.3(CEP78):c.1447C>T (p.Arg483Ter) rs1210581905 0.00001
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter) rs989080548 0.00001
NM_003322.6(TULP1):c.349G>A (p.Glu117Lys) rs527236117 0.00001
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg) rs201883601 0.00001
NM_019892.6(INPP5E):c.1787G>C (p.Arg596Thr) rs765327224 0.00001
NM_152443.3(RDH12):c.193C>T (p.Arg65Ter) rs778571042 0.00001
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln) rs971610277 0.00001
NM_201253.3(CRB1):c.4006-10A>G rs766850702 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_206933.4(USH2A):c.11389+3A>T rs753886165 0.00001
NM_206933.4(USH2A):c.12152_12153insTT (p.Glu4051fs) rs1064793289 0.00001
NM_206933.4(USH2A):c.14285A>G (p.Asn4762Ser) rs1254637647 0.00001
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr) rs1393503590 0.00001
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu) rs751479180 0.00001
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg) rs139311927 0.00001
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041 0.00001
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del) rs111033232
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_000330.4(RS1):c.579dup (p.Ile194fs) rs199469697
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) rs754012367
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000539.3(RHO):c.509C>G (p.Pro170Arg) rs1553781176
NM_000539.3(RHO):c.512C>T (p.Pro171Leu) rs2084776162
NM_000539.3(RHO):c.538C>A (p.Pro180Thr) rs1560046837
NM_000539.3(RHO):c.789CTG[1] (p.Cys264del) rs121918590
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs) rs750840208
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) rs528919874
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs) rs770748359
NM_001201543.2(FAM161A):c.1490C>G (p.Ser497Ter) rs2105080547
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs) rs760430056
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_002900.3(RBP3):c.1682_1686dup (p.Thr563fs) rs1555211286
NM_003322.6(TULP1):c.99+1G>A rs281865166
NM_004928.3(CFAP410):c.143+3A>T
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro) rs140451304
NM_004928.3(CFAP410):c.441_444del (p.Glu148fs) rs756970705
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs) rs527236116
NM_006531.5(IFT88):c.1082dup (p.Asn361fs) rs1594100988
NM_006915.3(RP2):c.768G>C (p.Glu256Asp) rs1227276668
NM_015629.4(PRPF31):c.1146+2T>G rs2073971890
NM_015629.4(PRPF31):c.527+3A>G rs587776590
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_152443.3(RDH12):c.185G>T (p.Arg62Leu) rs778481181
NM_152443.3(RDH12):c.215A>G (p.Asp72Gly) rs1594865341
NM_177972.3(TUB):c.1215+1G>A rs1589996458
NM_201253.3(CRB1):c.3427del (p.Cys1143fs) rs2125500431
NM_201548.5(CERKL):c.109C>T (p.Gln37Ter) rs1414280804
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser) rs569826109
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.4(USH2A):c.11156G>T (p.Arg3719Leu) rs527236139
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro) rs577938494
NM_206933.4(USH2A):c.13257_13263del (p.Phe4419fs) rs1057517533
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter) rs367674026
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter) rs754834155
NM_206933.4(USH2A):c.3296_3297del (p.Thr1099fs) rs748369458
NM_206933.4(USH2A):c.3589del (p.Ser1197fs) rs1553313810
NM_206933.4(USH2A):c.4251+1G>T rs878853405
NM_206933.4(USH2A):c.7415A>C (p.Gln2472Pro) rs2102470142
NM_207352.4(CYP4V2):c.802-8_810delinsGC rs207482233

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