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
239 36 0 28 0 0 14 42

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 11 4
likely pathogenic 17 0 1
uncertain significance 3 7 0

Submitter to submitter summary #

Total submitters: 19
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 18 0 5 0 0 0 5
Counsyl 0 4 0 3 0 0 2 5
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 3 0 0 2 5
Invitae 0 1 0 1 0 0 2 3
Ocular Genomics Institute, Massachusetts Eye and Ear 0 11 0 3 0 0 0 3
Natera, Inc. 0 8 0 1 0 0 1 2
Mendelics 0 4 0 2 0 0 0 2
Human Genetics - Radboudumc,Radboudumc 0 2 0 1 0 0 1 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 2 0 0 0 2
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 0 0 1 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 3 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 3 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
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

All variants with conflicting interpretations #

Total variants: 42
Download table as spreadsheet
HGVS dbSNP
NM_000180.4(GUCY2D):c.380C>T (p.Pro127Leu) rs878853343
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.5714+5G>A rs61751407
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000539.3(RHO):c.1033G>A (p.Val345Met) rs104893795
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566
NM_000539.3(RHO):c.173C>G (p.Thr58Arg) rs28933394
NM_000539.3(RHO):c.316G>A (p.Gly106Arg) rs104893773
NM_000539.3(RHO):c.509C>G (p.Pro170Arg) rs1553781176
NM_000539.3(RHO):c.512C>T (p.Pro171Leu)
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.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.1155T>A (p.Cys385Ter) rs143994166
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs) rs878853349
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) rs878853350
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001145291.1(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs) rs760430056
NM_006017.3(PROM1):c.1579-1G>C rs372513650
NM_006269.2(RP1):c.121T>C (p.Tyr41His) rs746359399
NM_017890.4(VPS13B):c.10156dup (p.Thr3386fs) rs386834055
NM_022124.6(CDH23):c.2398-1G>T rs751788879
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
NM_031885.4(BBS2):c.1237C>T (p.Arg413Ter) rs147030232
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143
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.2308G>A (p.Gly770Ser) rs767648174
NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg) rs749746650
NM_201548.5(CERKL):c.967_968del (p.Met323fs) rs750151209
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.3(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850
NM_206933.3(USH2A):c.1859G>T (p.Cys620Phe) rs758571672
NM_206933.3(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.3(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055

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