ClinVar Miner

Variants from Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg with conflicting interpretations

Location: Germany — Primary collection method: literature only
Minimum review status of the submission from Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg: Collection method of the submission from Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg:
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
411 54 0 22 4 0 9 34

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 of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 12 1 0 0
likely pathogenic 10 0 4 1 0
uncertain significance 0 3 0 1 3

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
GeneDx 0 24 0 10 0 0 0 10
Integrated Genetics/Laboratory Corporation of America 0 4 0 3 0 0 3 6
Illumina Clinical Services Laboratory,Illumina 0 2 0 0 4 0 2 6
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 1 2
Invitae 0 6 0 0 0 0 2 2
OMIM 0 12 0 1 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 0 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 1 0 1 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 1 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 0 0 0 0 1 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 7 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
NM_000458.4(HNF1B):c.1395C>G (p.Ser465Arg)
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
NM_000458.4(HNF1B):c.221T>A (p.Leu74Ter)
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000458.4(HNF1B):c.345-1G>T
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000458.4(HNF1B):c.517G>A (p.Val173Ile)
NM_000458.4(HNF1B):c.544+3_544+6del
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)
NM_001083962.2(TCF4):c.990G>A (p.Ser330=) rs587784469
NM_005560.5(LAMA5):c.10322C>T (p.Thr3441Met) rs200093098
NM_006009.4(TUBA1A):c.1096G>A (p.Gly366Arg) rs1555162299
NM_006009.4(TUBA1A):c.1148C>A (p.Ala383Asp) rs587784482
NM_006009.4(TUBA1A):c.1168C>G (p.Arg390Gly) rs1064793286
NM_006009.4(TUBA1A):c.1168C>T (p.Arg390Cys) rs1064793286
NM_006009.4(TUBA1A):c.1169G>C (p.Arg390Pro) rs1064796460
NM_006009.4(TUBA1A):c.1177C>T (p.His393Tyr) rs1555162288
NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala) rs797045005
NM_006009.4(TUBA1A):c.17C>G (p.Ser6Cys) rs1057520574
NM_006009.4(TUBA1A):c.379G>A (p.Asp127Asn) rs1085308005
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) rs587784489
NM_006009.4(TUBA1A):c.53A>G (p.Asn18Ser) rs1064795213
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006009.4(TUBA1A):c.641G>T (p.Arg214Leu) rs1057517843
NM_006009.4(TUBA1A):c.790C>G (p.Arg264Gly) rs137853043
NM_014055.4(IFT81):c.1150C>T (p.Arg384Cys) rs143130309
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418

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.