ClinVar Miner

Variants from Clinical Biochemistry Laboratory,Health Services Laboratory with conflicting interpretations

Location: United Kingdom — Primary collection method: research
Minimum review status of the submission from Clinical Biochemistry Laboratory,Health Services Laboratory: Collection method of the submission from Clinical Biochemistry Laboratory,Health Services Laboratory:
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
209 29 2 42 28 0 10 79

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
Clinical Biochemistry Laboratory,Health Services Laboratory pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 2 42 9 0 0
uncertain significance 1 1 0 16 21

Submitter to submitter summary #

Total submitters: 24
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
Counsyl 0 19 0 36 1 0 6 43
Illumina Clinical Services Laboratory,Illumina 0 9 0 1 17 0 2 20
PreventionGenetics 0 0 0 0 13 0 0 13
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 3 0 0 8 0 3 11
GeneReviews 0 13 2 0 4 0 1 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 3 0 0 4 0 0 4
Integrated Genetics/Laboratory Corporation of America 0 11 0 0 3 0 1 4
Yale Center for Mendelian Genomics,Yale University 0 0 0 4 0 0 0 4
OMIM 0 22 0 0 2 0 0 2
GeneDx 0 3 0 0 2 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 1 1 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 0 0 0 1 1
Breast Cancer Information Core (BIC) (BRCA1) 0 0 0 0 0 0 1 1
Department of Clinical Genetics,Tartu University Hospital 0 0 0 0 0 0 1 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 0 0 0 1 1
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 0 0 0 0 0 0 1 1
GenePathDx,Causeway Health Care Private Ltd 0 0 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 0 0 0 0 1 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 0 0 0 1 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 1 0 0 0 1
Mayo Clinic Genomics Laboratory,Mayo Clinic 0 0 0 0 0 0 1 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 79
Download table as spreadsheet
HGVS dbSNP
NM_000030.2(AGXT):c.*289A>C rs4344931
NM_000030.2(AGXT):c.*41C>A rs4273214
NM_000030.2(AGXT):c.1020A>G (p.Ile340Met) rs4426527
NM_000030.2(AGXT):c.1049G>A (p.Gly350Asp) rs180177156
NM_000030.2(AGXT):c.106C>T (p.Arg36Cys) rs180177157
NM_000030.2(AGXT):c.1079G>A (p.Arg360Gln) rs180177161
NM_000030.2(AGXT):c.116_117dupCA (p.Ala40Glnfs) rs180177166
NM_000030.2(AGXT):c.121G>A (p.Gly41Arg) rs121908523
NM_000030.2(AGXT):c.122G>T (p.Gly41Val) rs180177168
NM_000030.2(AGXT):c.130C>T (p.Gln44Ter) rs180177172
NM_000030.2(AGXT):c.165+16A>G rs66494441
NM_000030.2(AGXT):c.165+19_165+92dup74 rs180177174
NM_000030.2(AGXT):c.166-100A>C rs57017537
NM_000030.2(AGXT):c.166-14C>T rs180177176
NM_000030.2(AGXT):c.221_227dupTCACACT (p.Val77Hisfs) rs180177183
NM_000030.2(AGXT):c.245G>A (p.Gly82Glu) rs121908522
NM_000030.2(AGXT):c.264C>T (p.Ala88=) rs35698882
NM_000030.2(AGXT):c.26C>A (p.Thr9Asn) rs115014558
NM_000030.2(AGXT):c.302T>C (p.Leu101Pro) rs180177195
NM_000030.2(AGXT):c.322T>C (p.Trp108Arg) rs180177197
NM_000030.2(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.2(AGXT):c.33delC (p.Lys12Argfs) rs180177201
NM_000030.2(AGXT):c.346G>A (p.Gly116Arg) rs180177207
NM_000030.2(AGXT):c.352C>T (p.Arg118Cys) rs376844297
NM_000030.2(AGXT):c.358+13C>T rs34995778
NM_000030.2(AGXT):c.473C>T (p.Ser158Leu) rs180177225
NM_000030.2(AGXT):c.481G>A (p.Gly161Ser) rs180177227
NM_000030.2(AGXT):c.481G>T (p.Gly161Cys) rs180177227
NM_000030.2(AGXT):c.489G>A (p.Leu163=) rs147601535
NM_000030.2(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000030.2(AGXT):c.533G>A (p.Cys178Tyr) rs180177235
NM_000030.2(AGXT):c.557C>T (p.Ala186Val) rs117195882
NM_000030.2(AGXT):c.560C>T (p.Ser187Phe) rs180177238
NM_000030.2(AGXT):c.568G>A (p.Gly190Arg) rs180177239
NM_000030.2(AGXT):c.577delC (p.Leu193Phefs) rs180177241
NM_000030.2(AGXT):c.590G>A (p.Arg197Gln) rs34664134
NM_000030.2(AGXT):c.653C>T (p.Ser218Leu) rs180177253
NM_000030.2(AGXT):c.654G>A (p.Ser218=) rs33958047
NM_000030.2(AGXT):c.65A>G (p.Asn22Ser) rs34885252
NM_000030.2(AGXT):c.680+17C>T rs11693280
NM_000030.2(AGXT):c.697C>T (p.Arg233Cys) rs121908526
NM_000030.2(AGXT):c.698G>A (p.Arg233His) rs121908527
NM_000030.2(AGXT):c.705G>A (p.Thr235=) rs35977912
NM_000030.2(AGXT):c.731T>C (p.Ile244Thr) rs121908525
NM_000030.2(AGXT):c.737G>A (p.Trp246Ter) rs180177259
NM_000030.2(AGXT):c.777-1G>C rs180177267
NM_000030.2(AGXT):c.822G>C (p.Glu274Asp) rs146525143
NM_000030.2(AGXT):c.836T>C (p.Ile279Thr) rs140992177
NM_000030.2(AGXT):c.847-1G>C rs180177285
NM_000030.2(AGXT):c.866G>A (p.Arg289His) rs61729604
NM_000030.2(AGXT):c.891T>G (p.Tyr297Ter) rs180177292
NM_000030.2(AGXT):c.907C>T (p.Gln303Ter) rs180177294
NM_000030.2(AGXT):c.943-1G>T rs180177298
NM_000030.2(AGXT):c.976G>A (p.Val326Ile) rs115057148
NM_000030.2(AGXT):c.976delG (p.Val326Tyrfs) rs180177301
NM_000030.2(AGXT):c.996G>A (p.Trp332Ter) rs796052064
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961
NM_012203.1(GRHPR):c.102G>A (p.Trp34Ter) rs180177304
NM_012203.1(GRHPR):c.103delG (p.Asp35Thrfs) rs80356708
NM_012203.1(GRHPR):c.288-11C>T rs2736664
NM_012203.1(GRHPR):c.337G>A (p.Glu113Lys) rs180177307
NM_012203.1(GRHPR):c.404+3_404+6delAAGT rs180177309
NM_012203.1(GRHPR):c.493+2T>A rs180177313
NM_012203.1(GRHPR):c.579A>G (p.Ala193=) rs309458
NM_012203.1(GRHPR):c.734+9G>A rs56401536
NM_012203.1(GRHPR):c.735-1G>A rs180177317
NM_012203.1(GRHPR):c.864_865delTG (p.Val289Aspfs) rs180177321
NM_012203.1(GRHPR):c.866-25CT[9] rs34302950
NM_138413.3(HOGA1):c.107C>T (p.Ala36Val) rs201803986
NM_138413.3(HOGA1):c.208C>T (p.Arg70Ter) rs758304537
NM_138413.3(HOGA1):c.221T>G (p.Val74Gly) rs796052084
NM_138413.3(HOGA1):c.289C>T (p.Arg97Cys) rs267606762
NM_138413.3(HOGA1):c.337G>A (p.Glu113Lys) rs150702945
NM_138413.3(HOGA1):c.396G>A (p.Ala132=) rs41290456
NM_138413.3(HOGA1):c.529G>T (p.Asp177Tyr) rs777601935
NM_138413.3(HOGA1):c.535C>A (p.Pro179Thr) rs374327791
NM_138413.3(HOGA1):c.860G>T (p.Gly287Val) rs138207257
NM_138413.3(HOGA1):c.912C>A (p.Ala304=) rs12261752
Single allele

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.