ClinVar Miner

Variants from Medical & Molecular Genetics Group,University of Lincoln with conflicting interpretations

Location: United Kingdom — Primary collection method: literature only
Minimum review status of the submission from Medical & Molecular Genetics Group,University of Lincoln: Collection method of the submission from Medical & Molecular Genetics Group,University of Lincoln:
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
384 49 0 5 1 0 8 14

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
Medical & Molecular Genetics Group,University of Lincoln likely pathogenic uncertain significance likely benign
pathogenic 5 6 3
uncertain significance 0 0 1

Submitter to submitter summary #

Total submitters: 10
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
Invitae 0 15 0 2 0 0 5 7
Wendy Chung Laboratory,Columbia University Medical Center 0 0 0 1 0 0 2 3
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 1 0 1 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 14 0 0 0 0 1 1
Blueprint Genetics, 0 1 0 1 0 0 0 1
CSER_CC_NCGL; University of Washington Medical Center 0 0 0 0 0 0 1 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 0 0 1 1
Genetics,Medical University of Vienna 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_000020.2(ACVRL1):c.1055C>A (p.Ala352Asp) rs1085307415
NM_000020.2(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.2(ACVRL1):c.536A>C (p.Asp179Ala) rs753792569
NM_000020.2(ACVRL1):c.955G>C (p.Gly319Arg) rs1085307414
NM_000118.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669
NM_000118.3(ENG):c.640G>A (p.Gly214Ser) rs150932144
NM_001114753.2(ENG):c.788T>A (p.Ile263Asn) rs1085307431
NM_001204.6(BMPR2):c.-669G>A rs115604088
NM_001204.6(BMPR2):c.1042G>A (p.Val348Ile) rs201067849
NM_001204.6(BMPR2):c.1276+1G>A rs767070218
NM_001204.6(BMPR2):c.1276G>C (p.Gly426Arg) rs869025367
NM_001204.6(BMPR2):c.1509A>C (p.Glu503Asp) rs1060502583
NM_001204.6(BMPR2):c.797G>C (p.Arg266Thr) rs374694591
NM_001204.6(BMPR2):c.968-5A>G rs1060502584

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.