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 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
367 90 0 37 4 0 12 50

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 23 2 0 0
likely pathogenic 13 0 5 1 0
uncertain significance 1 3 0 4 0
likely benign 0 0 0 0 1

Submitter to submitter summary #

Total submitters: 24
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 38 0 13 1 0 0 14
Genetic Services Laboratory, University of Chicago 0 18 0 7 0 0 1 8
Integrated Genetics/Laboratory Corporation of America 0 5 0 3 0 0 3 6
Ambry Genetics 0 6 0 3 0 0 2 5
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 11 0 1 2 0 1 4
Athena Diagnostics Inc 0 7 0 2 1 0 0 3
OMIM 0 25 0 2 0 0 0 2
Baylor Genetics 0 3 0 0 0 0 2 2
Illumina Clinical Services Laboratory,Illumina 0 2 0 0 2 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 0 0 0 2 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 2 0 0 0 2
PreventionGenetics,PreventionGenetics 0 0 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
Invitae 0 1 0 0 0 0 1 1
Fulgent Genetics,Fulgent Genetics 0 3 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
Dobyns Lab,Seattle Children's Research Institute 0 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 1 0 0 0 1
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 0 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 1 0 0 1 0 0 1
Department of Pediatrics,Driscoll Children's Hospital 0 0 0 1 0 0 0 1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 50
Download table as spreadsheet
HGVS dbSNP
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp) rs138986885
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr) rs138986885
NM_000458.4(HNF1B):c.1006del (p.His336fs)
NM_000458.4(HNF1B):c.1561C>T (p.Gln521Ter) rs1057524479
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly) rs147816724
NM_000458.4(HNF1B):c.221T>A (p.Leu74Ter) rs193922486
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys) rs144425830
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn) rs140562402
NM_000458.4(HNF1B):c.345-1G>T rs193922488
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer) rs193922489
NM_000458.4(HNF1B):c.494G>A (p.Arg165His) rs121918675
NM_000458.4(HNF1B):c.517G>A (p.Val173Ile)
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys) rs202151409
NM_000458.4(HNF1B):c.884G>A (p.Arg295His) rs886043813
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser) rs193922492
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser) rs193922493
NM_001083962.2(TCF4):c.990G>A (p.Ser330=) rs587784469
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys) rs797044868
NM_003491.4(NAA10):c.382T>A (p.Phe128Ile) rs878853264
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.1105G>A (p.Ala369Thr) rs797046071
NM_006009.4(TUBA1A):c.1148C>A (p.Ala383Asp) rs587784482
NM_006009.4(TUBA1A):c.1148C>T (p.Ala383Val) rs587784482
NM_006009.4(TUBA1A):c.1168C>G (p.Arg390Gly) 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.1224C>A (p.Tyr408Ter) rs753719501
NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala) rs797045005
NM_006009.4(TUBA1A):c.1274T>A (p.Met425Lys) rs587784484
NM_006009.4(TUBA1A):c.13A>C (p.Ile5Leu) rs387906840
NM_006009.4(TUBA1A):c.17C>G (p.Ser6Cys) rs1057520574
NM_006009.4(TUBA1A):c.352G>A (p.Val118Met) rs863224938
NM_006009.4(TUBA1A):c.368G>A (p.Arg123His) rs1555162456
NM_006009.4(TUBA1A):c.379G>A (p.Asp127Asn) rs1085308005
NM_006009.4(TUBA1A):c.424G>A (p.Gly142Ser) rs1555162407
NM_006009.4(TUBA1A):c.481T>G (p.Tyr161Asp) rs587784488
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>T (p.Arg214Leu) rs1057517843
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn) rs1057517858
NM_006009.4(TUBA1A):c.790C>G (p.Arg264Gly) rs137853043
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His) rs886043627
NM_006009.4(TUBA1A):c.808G>T (p.Ala270Ser) rs587784494
NM_006009.4(TUBA1A):c.920C>T (p.Pro307Leu) rs1555162325
NM_006009.4(TUBA1A):c.959G>A (p.Arg320His) rs1555162323
NM_013275.6(ANKRD11):c.1898_1902AAACA[1] (p.Lys635fs) rs886041125
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446

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