ClinVar Miner

Variants from Human Genetics - Radboudumc,Radboudumc with conflicting interpretations

Location: Netherlands — Primary collection method: clinical testing
Minimum review status of the submission from Human Genetics - Radboudumc,Radboudumc: Collection method of the submission from Human Genetics - Radboudumc,Radboudumc:
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
159 32 0 15 0 0 15 29

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
Human Genetics - Radboudumc,Radboudumc pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 9 1 1
likely pathogenic 6 0 3 0
uncertain significance 5 5 0 0

Submitter to submitter summary #

Total submitters: 20
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 11 0 4 0 0 2 6
Invitae 0 2 0 0 0 0 4 4
Ocular Genomics Institute, Massachusetts Eye and Ear 0 11 0 2 0 0 2 4
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 3 0 2 0 0 1 3
GeneDx 0 1 0 1 0 0 2 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 2 0 0 1 3
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 2 0 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 0 0 0 2 2
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 2 0 1 0 0 1 2
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 0 0 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 4 0 2 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 0 0 0 0 1 1
Blueprint Genetics 0 2 0 0 0 0 1 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 0 0 0 1 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 0 0 0 1 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 5 0 1 0 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 0 3 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 1 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: 29
Download table as spreadsheet
HGVS dbSNP
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000329.3(RPE65):c.11+5G>A rs61751276
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile) rs61752398
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.5584+6T>C rs61750633
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val) rs868349465
NM_001145291.1(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476
NM_005802.5(TOPORS):c.2550_2553del (p.Asp850fs) rs1563983151
NM_006662.3(SRCAP):c.1174C>T (p.Gln392Ter) rs1555463754
NM_006662.3(SRCAP):c.148del (p.His50fs)
NM_006662.3(SRCAP):c.5461delinsAGA (p.Ser1821fs) rs1555464955
NM_006662.3(SRCAP):c.833del (p.Pro278fs) rs886041787
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.3(USH2A):c.6926G>T (p.Cys2309Phe) rs748983904
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902

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