ClinVar Miner

Variants from Section for Clinical Neurogenetics,University of Tübingen with conflicting interpretations

Location: Germany — Primary collection method: research
Minimum review status of the submission from Section for Clinical Neurogenetics,University of Tübingen: Collection method of the submission from Section for Clinical Neurogenetics,University of Tübingen:
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 per condition Variants with at least 2 submissions on the same condition 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 conflict
59 7 1 10 0 0 3 13

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
Section for Clinical Neurogenetics,University of Tübingen pathogenic likely pathogenic uncertain significance
pathogenic 1 3 3
likely pathogenic 7 0 0

Submitter to submitter summary #

Total submitters: 14
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
OMIM 0 7 0 4 0 0 0 4
GeneReviews 0 1 1 1 0 0 0 2
Undiagnosed Diseases Network,NIH 0 0 0 1 0 0 1 2
Counsyl 0 1 0 0 0 0 1 1
Integrated Genetics/Laboratory Corporation of America 0 0 0 1 0 0 0 1
Invitae 0 2 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 0 1
RettBASE 0 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 1 0 0 0 0 1 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_000199.5(SGSH):c.416C>T (p.Thr139Met) rs775112689
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001135254.2(PAX7):c.220C>T (p.Arg74Ter) rs1176071790
NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs) rs745744124
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln) rs775162839
NM_005186.4(CAPN1):c.1605+5G>A rs375817528
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_014252.4(SLC25A15):c.446del (p.Ser149fs) rs1566123619
NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) rs765379963
NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs) rs312262759
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212

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.