ClinVar Miner

Variants from Center for Bioinformatics, Peking University with conflicting interpretations

Location: China — Primary collection method: research
Minimum review status of the submission from Center for Bioinformatics, Peking University: Collection method of the submission from Center for Bioinformatics, Peking University:
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
154 56 0 9 0 0 5 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
Center for Bioinformatics, Peking University likely pathogenic uncertain significance
pathogenic 9 5

Submitter to submitter summary #

Total submitters: 4
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
GeneDx 0 35 0 3 0 0 1 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 9 0 1 0 0 3 4
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 4 0 0 0 4
Invitae 0 19 0 2 0 0 1 3

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_001165963.1(SCN1A):c.1076A>G (p.Asn359Ser) rs794726713
NM_001165963.1(SCN1A):c.2985T>G (p.Phe995Leu) rs794726746
NM_001165963.1(SCN1A):c.3818C>T (p.Ala1273Val) rs794726841
NM_001165963.1(SCN1A):c.4997C>T (p.Ser1666Phe) rs794726760
NM_001165963.1(SCN1A):c.694+5G>C rs727504142
NM_001165963.1(SCN1A):c.769T>C (p.Cys257Arg) rs794726771
NM_001165963.1(SCN1A):c.965-1G>A rs794726824
NM_006920.4(SCN1A):c.1130G>A (p.Arg377Gln) rs121917957
NM_006920.4(SCN1A):c.2552G>A (p.Arg851Gln) rs121918785
NM_006920.4(SCN1A):c.269T>C (p.Phe90Ser) rs121918733
NM_006920.5(SCN1A):c.4789G>T (p.Asp1597Tyr) rs121917915
NM_006920.5(SCN1A):c.4940C>T (p.Thr1647Met) rs121917922
NM_006920.5(SCN1A):c.664C>T (p.Arg222Ter) rs121918624

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.