ClinVar Miner

Variants from Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals with conflicting interpretations

Location: United Kingdom  Primary collection method: clinical testing
Minimum review status of the submission from Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals: Collection method of the submission from Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals:
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
226 41 0 36 0 0 16 52

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
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals pathogenic likely pathogenic uncertain significance
pathogenic 0 13 5
likely pathogenic 23 0 1
uncertain significance 4 7 0

Submitter to submitter summary #

Total submitters: 25
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
Blueprint Genetics 0 10 0 8 0 0 7 15
OMIM 0 19 0 7 0 0 0 7
Invitae 0 2 0 3 0 0 3 6
Counsyl 0 4 0 3 0 0 2 5
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 3 0 0 2 5
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 2 0 0 1 3
Ocular Genomics Institute, Massachusetts Eye and Ear 0 11 0 3 0 0 0 3
Genomics England Pilot Project, Genomics England 0 5 0 3 0 0 0 3
Dept Of Ophthalmology, Nagoya University 0 2 0 2 0 0 1 3
Natera, Inc. 0 11 0 1 0 0 1 2
Mendelics 0 4 0 2 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 2 0 1 0 0 1 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 0 1 0 0 0 1
Revvity Omics, Revvity 0 1 0 1 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 6 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 0 0 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 0 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 1 0 0 0 1
3billion 0 6 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 52
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166 0.00064
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_006269.2(RP1):c.121T>C (p.Tyr41His) rs746359399 0.00004
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter) rs147030232 0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174 0.00003
NM_000539.3(RHO):c.316G>A (p.Gly106Arg) rs104893773 0.00002
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956 0.00002
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) rs758571672 0.00002
NM_000180.4(GUCY2D):c.380C>T (p.Pro127Leu) rs878853343 0.00001
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_000539.3(RHO):c.936+1G>T rs776014770 0.00001
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs) rs878853349 0.00001
NM_006017.3(PROM1):c.1579-1G>C rs372513650 0.00001
NM_020366.4(RPGRIP1):c.2314C>T (p.Gln772Ter) rs577932201 0.00001
NM_022124.6(CDH23):c.2398-1G>T rs751788879 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg) rs749746650 0.00001
NM_201253.3(CRB1):c.3017C>T (p.Ser1006Phe) rs878853367 0.00001
NM_201548.5(CERKL):c.967_968del (p.Met323fs) rs750151209 0.00001
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_000539.3(RHO):c.1033G>A (p.Val345Met) rs104893795
NM_000539.3(RHO):c.173C>G (p.Thr58Arg) rs28933394
NM_000539.3(RHO):c.204_215del (p.Arg69_Leu72del) rs2084757679
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.533A>G (p.Tyr178Cys) rs104893776
NM_000539.3(RHO):c.538C>A (p.Pro180Thr) rs1560046837
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.563G>A (p.Gly188Glu) rs1424131846
NM_000539.3(RHO):c.632A>C (p.His211Pro) rs28933993
NM_000554.6(CRX):c.605del (p.Cys202fs) rs878853383
NM_001122769.3(LCA5):c.633_639del (p.Glu211fs) rs878853382
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) rs878853350
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs) rs760430056
NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter) rs868538598
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
NM_152564.5(VPS13B):c.6046+1G>C rs750003804
NM_201253.3(CRB1):c.1006T>C (p.Cys336Arg) rs878853370
NM_201253.3(CRB1):c.1612_1613insCTTA (p.Leu538fs) rs878853364
NM_201253.3(CRB1):c.2869C>T (p.Gln957Ter) rs878853371
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.