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 Variants with at least 2 submissions 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 kind of conflict
162 35 1 36 1 2 22 54

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 benign other
pathogenic 1 17 10 0 2
likely pathogenic 19 0 3 0 0
uncertain significance 4 8 0 1 0

Submitter to submitter summary #

Total submitters: 28
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
NIHR Bioresource Rare Diseases, University of Cambridge 0 11 0 12 0 0 4 16
GeneDx 0 17 0 12 0 0 2 14
Counsyl 0 19 0 6 0 0 5 11
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 14 0 4 0 2 3 9
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 13 0 2 1 0 1 4
Human Genetics - Radboudumc,Radboudumc 0 3 0 3 0 0 1 4
Sharon lab,Hadassah-Hebrew University Medical Center 0 7 0 4 0 0 0 4
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 6 0 3 0 0 0 3
Invitae 0 7 0 1 1 0 1 3
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 244 4 0 0 0 0 3 3
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 0 3 0 3 0 0 0 3
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 0 0 3 0 0 0 3
Baylor Genetics 0 4 0 0 0 0 2 2
Ambry Genetics 0 2 0 2 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 7 0 1 0 0 1 2
Illumina Clinical Services Laboratory,Illumina 0 8 0 1 0 0 1 2
OMIM 0 13 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 4 0 1 0 0 0 1
GeneReviews 0 0 1 0 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1 1
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 0 0 0 0 1 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 0 0 0 1 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 2 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 54
Download table as spreadsheet
HGVS dbSNP
NM_000260.4(MYO7A):c.132+5G>A rs397516284
NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter) rs878853378
NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly) rs869312181
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423
NM_000283.3(PDE6B):c.291C>A (p.Tyr97Ter) rs876657718
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.3(ABCA4):c.2566T>A (p.Tyr856Asn) rs201223321
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) rs61750135
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
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_001122769.3(LCA5):c.633_639del (p.Glu211fs) rs878853382
NM_001142564.1(CNGA1):c.1747C>T (p.Arg583Ter) rs199584830
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166
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_001145847.2(PROM1):c.1327dup (p.Tyr443fs) rs543698823
NM_001145847.2(PROM1):c.1552-1G>C rs372513650
NM_001195794.1(CLRN1):c.118T>G (p.Cys40Gly) rs121908143
NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) rs111033258
NM_004744.5(LRAT):c.473G>A (p.Trp158Ter) rs878853351
NM_006269.2(RP1):c.2749C>T (p.Gln917Ter) rs878853326
NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln) rs878853354
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_014014.5(SNRNP200):c.1871G>A (p.Arg624Lys) rs527236115
NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr) rs773372123
NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser) rs547495754
NM_015404.4(WHRN):c.1627-5T>A rs187221008
NM_015629.4(PRPF31):c.1120C>T (p.Gln374Ter) rs869312187
NM_017890.4(VPS13B):c.10156dup (p.Thr3386fs) rs386834055
NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter) rs878853337
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_025114.3(CEP290):c.1781T>A (p.Leu594Ter) rs371496675
NM_025114.3(CEP290):c.2052+1_2052+2delGT rs747835249
NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_031885.4(BBS2):c.1237C>T (p.Arg413Ter) rs147030232
NM_033028.5(BBS4):c.712-1G>A rs377031435
NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs) rs753690225
NM_201253.3(CRB1):c.1006T>C (p.Cys336Arg) rs878853370
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.11549-1G>A rs878853407
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.3158-2A>G rs878853404
NM_206933.3(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.3(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844

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