ClinVar Miner

Variants from Tolun Lab, Human Genetics Laboratory,Bogazici University with conflicting interpretations

Location: Turkey — Primary collection method: research
Minimum review status of the submission from Tolun Lab, Human Genetics Laboratory,Bogazici University: Collection method of the submission from Tolun Lab, Human Genetics Laboratory,Bogazici 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
6 0 0 0 3 1 1 5

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
Tolun Lab, Human Genetics Laboratory,Bogazici University pathogenic likely benign benign risk factor
uncertain significance 1 1 3 1

Submitter to submitter summary #

Total submitters: 8
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
PreventionGenetics 0 0 0 0 3 0 0 3
Invitae 0 0 0 0 3 0 0 3
OMIM 0 0 0 0 0 1 1 2
Genetic Services Laboratory, University of Chicago 0 0 0 0 2 0 0 2
GeneDx 0 0 0 0 1 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 5
Download table as spreadsheet
HGVS dbSNP
NM_001173982.1(CHST11):c.467_481del (p.Leu156_Asn160del)
NM_015102.4(NPHP4):c.1852G>A (p.Glu618Lys) rs571655
NM_018848.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909
NM_024296.4(CCDC28B):c.330C>T (p.Phe110=) rs41263993
NM_153704.5(TMEM67):c.2397T>C (p.Asp799=) rs117195541

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