ClinVar Miner

Variants from Sharon lab, Hadassah-Hebrew University Medical Center with conflicting interpretations

Location: Israel  Primary collection method: research
Minimum review status of the submission from Sharon lab, Hadassah-Hebrew University Medical Center: Collection method of the submission from Sharon lab, Hadassah-Hebrew University Medical Center:
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
409 77 1 60 0 2 23 79

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
Sharon lab, Hadassah-Hebrew University Medical Center pathogenic likely pathogenic uncertain significance benign established risk allele other
pathogenic 0 37 8 0 0 0
likely pathogenic 23 1 14 2 2 1

Submitter to submitter summary #

Total submitters: 52
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
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 15 0 8 0 0 1 9
Invitae 0 14 0 5 0 0 4 9
NIHR Bioresource Rare Diseases, University of Cambridge 0 11 0 9 0 0 0 9
Illumina Laboratory Services, Illumina 0 5 0 3 0 0 5 8
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 13 0 7 0 0 1 8
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 6 0 0 0 6
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 9 0 6 0 0 0 6
OMIM 0 14 0 4 0 0 1 5
Molecular Genetics Laboratory, Institute for Ophthalmic Research 0 6 0 5 0 0 0 5
Natera, Inc. 0 21 0 3 0 0 2 5
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 2 0 2 1 5
Baylor Genetics 0 10 0 1 0 0 2 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 8 0 3 0 0 0 3
GeneDx 0 2 0 3 0 0 0 3
Mendelics 0 8 0 2 0 0 1 3
Fulgent Genetics, Fulgent Genetics 0 4 0 1 0 0 2 3
Revvity Omics, Revvity 0 1 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 3 0 2 0 0 0 2
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 1 0 0 0 2
PXE International 0 1 0 0 0 0 2 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 5 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 3 0 2 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 5 0 1 0 0 1 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 0 2 0 0 0 2
3billion 0 4 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 3 0 1 0 0 0 1
Clinical Genetics, Academic Medical Center 0 1 0 1 0 0 0 1
Molecular Vision Laboratory 0 0 0 0 0 1 0 1
Counsyl 0 2 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 10 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 1 0 1 0 0 0 1
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 0 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 0 0 0 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 0 1 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 4 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 0 1
Department of Genetics, Fundacion Jimenez Diaz University Hospital 0 0 0 0 0 0 1 1
Leiden Open Variation Database 0 3 0 1 0 0 0 1
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 0 0 0 0 0 0 1 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 1 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 0 0 1 1
Myriad Genetics, Inc. 0 3 0 0 0 0 1 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 1 0 0 0 1
Laboratory of Genetics in Ophthalmology, Institut Imagine 0 0 0 1 0 0 0 1
Genome-Nilou Lab 0 1 0 0 0 0 1 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 9 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 0 0 0 1 1
Arcensus 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 79
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174 0.01708
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862 0.00276
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493 0.00166
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765 0.00136
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548 0.00090
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175 0.00087
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) rs147415641 0.00049
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp) rs200897773 0.00040
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_005530.3(IDH3A):c.938T>C (p.Met313Thr) rs149862950 0.00018
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_001297.5(CNGB1):c.413-1G>A rs189234741 0.00010
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145 0.00009
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) rs62642574 0.00006
NM_001379270.1(CNGA1):c.503T>G (p.Ile168Ser) rs373448145 0.00006
NM_004183.4(BEST1):c.1415del (p.Leu472fs) rs752125512 0.00006
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155 0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) rs104893621 0.00003
NM_001379270.1(CNGA1):c.1044C>A (p.Ser348Arg) rs759079269 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys) rs72547566 0.00002
NM_001171.6(ABCC6):c.3883-6G>A rs72664214 0.00002
NM_002905.5(RDH5):c.382G>A (p.Asp128Asn) rs377029071 0.00002
NM_005530.3(IDH3A):c.911C>A (p.Pro304His) rs756712426 0.00002
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782 0.00001
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) rs376535635 0.00001
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283 0.00001
NM_000274.4(OAT):c.800C>T (p.Thr267Ile) rs386833618 0.00001
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) rs61755783 0.00001
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) rs61755806 0.00001
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403 0.00001
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861 0.00001
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596 0.00001
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=) rs768701595 0.00001
NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter) rs1485132228 0.00001
NM_004183.4(BEST1):c.653G>A (p.Arg218His) rs281865239 0.00001
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170 0.00001
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu) rs547581739 0.00001
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000274.4(OAT):c.159del (p.His53fs) rs386833599
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile) rs61753224
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr) rs61755801
NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys) rs1557787473
NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu) rs886044746
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_001029883.3(PCARE):c.707T>G (p.Ile236Ser) rs1396413765
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001099271.2(POC5):c.304_305del (p.Thr101_Asp102insTer) rs1561480377
NM_001142800.2(EYS):c.1211dup (p.Asn404fs) rs764163418
NM_001298.3(CNGA3):c.934ATC[2] (p.Ile314del) rs777878533
NM_004183.4(BEST1):c.324C>G (p.Ser108Arg) rs1565388478
NM_004183.4(BEST1):c.620T>A (p.Leu207His) rs1591289408
NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met) rs121434241
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs) rs527236116
NM_020184.4(CNNM4):c.707G>A (p.Arg236Gln) rs75267011
NM_033100.4(CDHR1):c.827G>A (p.Gly276Asp) rs1589300382
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val) rs139474806

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