ClinVar Miner

Variants from Clinical Genetics, Erasmus University Medical Center with conflicting interpretations

Location: Netherlands — Primary collection method: research
Minimum review status of the submission from Clinical Genetics, Erasmus University Medical Center: Collection method of the submission from Clinical Genetics, Erasmus University Medical Center:
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
326 4 0 1 9 0 2 11

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 Genetics, Erasmus University Medical Center pathogenic likely pathogenic uncertain significance likely benign benign
likely pathogenic 1 0 1 1 0
uncertain significance 0 1 0 6 6

Submitter to submitter summary #

Total submitters: 14
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 0 0 0 7 0 1 8
GeneDx 0 1 0 0 4 0 1 5
Genetic Services Laboratory, University of Chicago 0 0 0 0 1 0 1 2
Ambry Genetics 0 0 0 0 2 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 2 0 0 2
PreventionGenetics,PreventionGenetics 0 0 0 0 2 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 0 2 0 0 2
Illumina Clinical Services Laboratory,Illumina 0 2 0 0 2 0 0 2
OMIM 0 1 0 1 0 0 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 0 1 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 1 0 0 1
Mendelics 0 0 0 0 1 0 0 1
Gharavi Laboratory,Columbia University 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716
NM_001083962.2(TCF4):c.337G>C (p.Gly113Arg) rs1556050492
NM_001135599.3(TGFB2):c.272G>A (p.Arg91His) rs10482721
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser) rs140666848
NM_001377.3(DYNC2H1):c.12366+8A>G rs200404815
NM_002249.6(KCNN3):c.200_202AGC[16] (p.Gln79_Gln80dup)
NM_002615.7(SERPINF1):c.643+8C>T rs149399910
NM_003373.4(VCL):c.2388G>A (p.Pro796=) rs767809
NM_015634.4(KIFBP):c.1516dup (p.Ile506fs) rs781469363
NM_015634.4(KIFBP):c.68A>G (p.Glu23Gly) rs148768851
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704

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