ClinVar Miner

Variants from Rare Disease Group, Clinical Genetics,Karolinska Institutet with conflicting interpretations

Location: Sweden — Primary collection method: research
Minimum review status of the submission from Rare Disease Group, Clinical Genetics,Karolinska Institutet: Collection method of the submission from Rare Disease Group, Clinical Genetics,Karolinska Institutet:
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
71 4 0 1 3 0 13 15

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
Rare Disease Group, Clinical Genetics,Karolinska Institutet pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 0 1 0
likely pathogenic 1 0 1 1
uncertain significance 9 5 0 3

Submitter to submitter summary #

Total submitters: 23
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
Illumina Clinical Services Laboratory,Illumina 0 0 0 1 3 0 4 7
OMIM 0 1 0 1 0 0 4 5
GeneDx 0 2 0 0 0 0 5 5
Invitae 0 0 0 1 0 0 3 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 2 0 0 1 0 2 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 0 1 2
Dan Cohn Lab,University Of California Los Angeles 0 2 0 1 0 0 1 2
Baylor Miraca Genetics Laboratories, 0 0 0 0 0 0 1 1
Athena Diagnostics Inc 0 0 0 0 0 0 1 1
Genetic Services Laboratory, University of Chicago 0 0 0 0 0 0 1 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 0 0 1 1
Ambry Genetics 0 0 0 0 0 0 1 1
GeneReviews 0 0 0 0 0 0 1 1
Fulgent Genetics 0 0 0 0 0 0 1 1
Neurogenetics of motion laboratory,Montreal Neurological Institute 0 0 0 0 0 0 1 1
UW Hindbrain Malformation Research Program,University of Washington 0 1 0 0 0 0 1 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 0 0 0 1 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 0 0 0 0 1 1
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 0 0 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 0 0 1 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_001080463.1(DYNC2H1):c.1540C>T (p.Arg514Ter)
NM_001080463.1(DYNC2H1):c.624_625delGTinsAA (p.Phe209Ile) rs431905498
NM_001080463.1(DYNC2H1):c.6910G>A (p.Ala2304Thr) rs747348765
NM_001080463.1(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001080463.1(DYNC2H1):c.[11284A>G;5971A>T]
NM_001286577.1(C2CD3):c.5267G>A (p.Gly1756Glu) rs150291837
NM_001845.5(COL4A1):c.161C>T (p.Pro54Leu) rs34004222
NM_001846.3(COL4A2):c.1948C>T (p.Pro650Ser) rs200735885
NM_001846.3(COL4A2):c.4987G>A (p.Gly1663Ser) rs12877501
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_015531.5(C2CD3):c.5227G>T (p.Gly1743Cys) rs1064793399
NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) rs143319805
NM_025132.3(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363
NM_052985.3(IFT122):c.1636G>A (p.Gly546Arg) rs397515568
NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter) rs201780665

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