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
416 72 1 54 0 1 26 77

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 other
pathogenic 0 30 9 0 0
likely pathogenic 24 1 16 2 1

Submitter to submitter summary #

Total submitters: 35
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
NIHR Bioresource Rare Diseases, University of Cambridge 0 11 0 10 0 0 0 10
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 14 0 8 0 0 1 9
Invitae 0 17 0 2 0 0 7 9
Illumina Clinical Services Laboratory,Illumina 0 4 0 3 0 0 6 9
Counsyl 0 3 0 2 0 0 6 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
Molecular Genetics Laboratory,Institute for Ophthalmic Research 0 6 0 5 0 0 0 5
OMIM 0 13 0 4 0 0 0 4
Baylor Genetics 0 6 0 2 0 0 1 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 8 0 3 0 0 0 3
Natera, Inc. 0 12 0 1 0 0 2 3
Mendelics 0 8 0 2 0 0 1 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 5 0 2 0 0 1 3
GeneDx 0 6 0 2 0 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 3 0 1 0 0 1 2
Fulgent Genetics,Fulgent Genetics 0 2 0 1 0 0 1 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
Ocular Genomics Institute, Massachusetts Eye and Ear 0 5 0 1 0 0 1 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 0 2 0 0 0 2
Molecular Vision Laboratory 0 0 0 0 0 1 0 1
Integrated Genetics/Laboratory Corporation of America 0 3 0 1 0 0 0 1
GeneReviews 0 2 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 0 1 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 0 3 0 1 0 0 0 1
Department of Genetics,Fundacion Jimenez Diaz University Hospital 0 0 0 0 0 0 1 1
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 0 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 5 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 1 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 1 0 1 0 0 0 1
Laboratory of Genetics in Ophthalmology,Institut Imagine 0 0 0 1 0 0 0 1
Faculty of Health Sciences,Beirut Arab University 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 77
Download table as spreadsheet
HGVS dbSNP
NM_000087.4(CNGA1):c.1056C>A (p.Ser352Arg) rs759079269
NM_000087.4(CNGA1):c.515T>G (p.Ile172Ser) rs373448145
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) rs376535635
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000274.3(OAT):c.800C>T (p.Thr267Ile) rs386833618
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) rs61755806
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys) rs1557787473
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His) rs768278935
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) rs146786552
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
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.4594G>A (p.Asp1532Asn) rs62642574
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403
NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu) rs886044746
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.3(ABCA4):c.5714+5G>A rs61751407
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200
NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn) rs1571242070
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_001142800.2(EYS):c.1211dup (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.2137+1G>A rs199740930
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493
NM_001171.5(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174
NM_001171.5(ABCC6):c.3883-6G>A rs72664214
NM_001171814.1(OAT):c.-215-3048del rs386833599
NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del) rs1557110499
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411
NM_001297.5(CNGB1):c.413-1G>A rs189234741
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) rs104893621
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) rs147415641
NM_001298.3(CNGA3):c.934ATC[2] (p.Ile314del) rs777878533
NM_004183.4(BEST1):c.1415del (p.Leu472fs) rs752125512
NM_004183.4(BEST1):c.324C>G (p.Ser108Arg) rs1565388478
NM_004183.4(BEST1):c.620T>A (p.Leu207His) rs1591289408
NM_004183.4(BEST1):c.653G>A (p.Arg218His) rs281865239
NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met) rs121434241
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873
NM_015120.4(ALMS1):c.12007C>T (p.Arg4003Trp) rs200897773
NM_019098.4(CNGB3):c.1208G>A rs147876778
NM_020184.4(CNNM4):c.707G>A (p.Arg236Gln) rs75267011
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444
NM_024753.5(TTC21B):c.1088-1G>C rs753627675
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594
NM_033100.4(CDHR1):c.827G>A (p.Gly276Asp) rs1589300382
NM_145200.4(CABP4):c.757C>T (p.Arg253Ter) rs761991624
NM_152443.3(RDH12):c.146C>T (p.Thr49Met) rs28940314
NM_206933.3(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919
NM_206933.3(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170
NM_206933.3(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.3(USH2A):c.14020A>G (p.Arg4674Gly) rs80338904
NM_206933.3(USH2A):c.14570G>C (p.Gly4857Ala) rs749889050
NM_206933.3(USH2A):c.1481A>G (p.Tyr494Cys) rs898430789
NM_206933.3(USH2A):c.2167+5G>A rs771583281
NM_206933.3(USH2A):c.3176C>T (p.Pro1059Leu) rs547581739
NM_206933.3(USH2A):c.4174G>T (p.Gly1392Ter) rs1177198729
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg) rs150230450

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