ClinVar Miner

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

Location: Germany — Primary collection method: case-control
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
206 52 0 28 0 0 6 32

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
pathogenic 0 16 1
likely pathogenic 12 0 4
uncertain significance 1 0 0

Submitter to submitter summary #

Total submitters: 13
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 31 0 11 0 0 0 11
Genetic Services Laboratory, University of Chicago 0 18 0 7 0 0 1 8
Ambry Genetics 0 6 0 3 0 0 2 5
Baylor Miraca Genetics Laboratories, 0 2 0 0 0 0 2 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 2 0 0 0 2
OMIM 0 16 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 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 0 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 0 0 0 1 1
Department of Pediatrics,Driscoll Children's Hospital 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_001083962.1(TCF4):c.990G>A (p.Ser330=) rs587784469
NM_001270399.1(TUBA1A):c.920C>T (p.Pro307Leu) rs1555162325
NM_003491.3(NAA10):c.247C>T (p.Arg83Cys) rs797044868
NM_006009.2(TUBA1A):c.1096G>A (p.Gly366Arg) rs1555162299
NM_006009.2(TUBA1A):c.1168C>G (p.Arg390Gly) rs1064793286
NM_006009.2(TUBA1A):c.641G>T (p.Arg214Leu) rs1057517843
NM_006009.3(TUBA1A):c.1105G>A (p.Ala369Thr) rs797046071
NM_006009.3(TUBA1A):c.1148C>T (p.Ala383Val) rs587784482
NM_006009.3(TUBA1A):c.1169G>C (p.Arg390Pro) rs1064796460
NM_006009.3(TUBA1A):c.1177C>T (p.His393Tyr) rs1555162288
NM_006009.3(TUBA1A):c.1224C>A (p.Tyr408Ter) rs753719501
NM_006009.3(TUBA1A):c.1274T>A (p.Met425Lys) rs587784484
NM_006009.3(TUBA1A):c.13A>C (p.Ile5Leu) rs387906840
NM_006009.3(TUBA1A):c.352G>A (p.Val118Met) rs863224938
NM_006009.3(TUBA1A):c.368G>A (p.Arg123His) rs1555162456
NM_006009.3(TUBA1A):c.424G>A (p.Gly142Ser) rs1555162407
NM_006009.3(TUBA1A):c.481T>G (p.Tyr161Asp) rs587784488
NM_006009.3(TUBA1A):c.521C>T (p.Ala174Val) rs587784489
NM_006009.3(TUBA1A):c.53A>G (p.Asn18Ser) rs1064795213
NM_006009.3(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006009.3(TUBA1A):c.791G>A (p.Arg264His) rs886043627
NM_006009.3(TUBA1A):c.808G>T (p.Ala270Ser) rs587784494
NM_006009.3(TUBA1A):c.959G>A (p.Arg320His) rs1555162323
NM_006009.4(TUBA1A):c.1148C>A (p.Ala383Asp) rs587784482
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.652G>A (p.Asp218Asn) rs1057517858
NM_006009.4(TUBA1A):c.790C>G (p.Arg264Gly) rs137853043
NM_013275.5(ANKRD11):c.1903_1907delAAACA (p.Lys635Glnfs) rs886041125
NM_021942.5(TRAPPC11):c.1287+5G>A rs397509418
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446

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