ClinVar Miner

Variants from Institute for Human Genetics,University Clinic Freiburg with conflicting interpretations

Location: Germany — Primary collection method: clinical testing
Minimum review status of the submission from Institute for Human Genetics,University Clinic Freiburg: Collection method of the submission from Institute for Human Genetics,University Clinic Freiburg:
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
192 25 0 3 0 0 8 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
Institute for Human Genetics,University Clinic Freiburg likely pathogenic uncertain significance
pathogenic 3 8

Submitter to submitter summary #

Total submitters: 6
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
Illumina Clinical Services Laboratory,Illumina 0 3 0 1 0 0 6 7
Baylor Genetics 0 4 0 0 0 0 1 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_001099287.1(NIPAL4):c.463+5G>A rs376074083
NM_001139.3(ALOX12B):c.1015C>G (p.Pro339Ala)
NM_001139.3(ALOX12B):c.1294C>T (p.Arg432Ter) rs397514527
NM_001139.3(ALOX12B):c.1325G>A (p.Arg442Gln)
NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met) rs199545653
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp) rs397514532
NM_001139.3(ALOX12B):c.526G>A (p.Glu176Lys) rs149039053
NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu) rs118091316
NM_173483.4(CYP4F22):c.667C>T (p.Gln223Ter) rs199892192
NM_173483.4(CYP4F22):c.712G>A (p.Ala238Thr) rs572278771
NM_173483.4(CYP4F22):c.844C>T (p.Arg282Trp) rs767352854

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