ClinVar Miner

Variants from Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia with conflicting interpretations

Location: Germany — Primary collection method: clinical testing
Minimum review status of the submission from Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia: Collection method of the submission from Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia:
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
34 17 0 6 4 0 6 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
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 2 0 0
likely pathogenic 4 0 4 0
uncertain significance 1 2 0 2
likely benign 0 0 2 0

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 18 0 2 1 0 4 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 11 0 1 1 0 4 6
GeneDx 0 14 0 2 2 0 2 6
Ambry Genetics 0 10 0 1 0 0 3 4
OMIM 0 4 0 2 0 0 1 3
Integrated Genetics/Laboratory Corporation of America 0 1 0 1 1 0 1 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 6 0 0 1 0 2 3
CSER_CC_NCGL; University of Washington Medical Center 0 1 0 1 0 0 1 2
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 2 0 1 0 0 1 2
Color 0 2 0 0 0 0 2 2
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 4 0 0 1 0 0 1
Biesecker Lab/Human Development Section,National Institutes of Health 0 1 0 0 1 0 0 1
Claritas Genomics 0 0 0 0 0 0 1 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) rs397516089
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699
NM_000258.2(MYL3):c.461G>A (p.Arg154His) rs104893749
NM_000432.3(MYL2):c.401A>C (p.Glu134Ala) rs143139258
NM_001256850.1(TTN):c.54190C>T (p.Arg18064Cys) rs72646839
NM_001256850.1(TTN):c.82432delG (p.Ala27478Leufs) rs794729356
NM_001885.2(CRYAB):c.326A>G (p.Asp109Gly) rs1114167341
NM_003280.2(TNNC1):c.435C>A (p.Asp145Glu) rs267607124
NM_004415.2(DSP):c.3551G>A (p.Arg1184Gln) rs147909031
NM_004415.2(DSP):c.3616T>A (p.Leu1206Ile) rs151115778
NM_004572.3(PKP2):c.2146-1G>C rs193922674
NM_133378.4(TTN):c.95173A>G (p.Lys31725Glu) rs72629783
NM_144573.3(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197
NM_170707.3(LMNA):c.1634G>A (p.Arg545His) rs142191737

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