ClinVar Miner

Variants from Institute of Human Genetics, FAU Erlangen, 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, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg: Collection method of the submission from Institute of Human Genetics, FAU Erlangen, 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
505 61 0 23 10 1 27 60

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, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 18 4 0 0 1
likely pathogenic 4 0 19 1 1 0
uncertain significance 0 3 0 4 3 0
likely benign 0 0 3 0 1 0

Submitter to submitter summary #

Total submitters: 35
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
Invitae 0 10 0 1 3 0 6 10
Ambry Genetics 0 3 0 0 0 0 9 9
Illumina Laboratory Services, Illumina 0 5 0 1 4 0 3 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 8 0 3 0 0 3 6
CeGaT Center for Human Genetics Tuebingen 0 9 0 2 1 0 1 4
Baylor Genetics 0 6 0 2 1 0 0 3
GeneDx 0 15 0 2 0 0 1 3
Revvity Omics, Revvity 0 11 0 1 0 0 2 3
PreventionGenetics, part of Exact Sciences 0 5 0 1 1 0 1 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 6 0 2 0 0 1 3
OMIM 0 21 0 1 0 1 0 2
Genetic Services Laboratory, University of Chicago 0 2 0 2 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 0 2 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 6 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 0 1 0 0 0 1
Counsyl 0 0 0 1 0 0 0 1
Mendelics 0 1 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 6 0 0 0 0 1 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 10 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 0 0 0 0 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 2 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 5 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 3 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 7 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 0 1 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1 1
Molecular Biology Laboratory, Fundació Puigvert 0 7 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 5 0 1 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 60
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.1419+9C>T rs374635008 0.00128
NM_017514.5(PLXNA3):c.56G>A (p.Gly19Asp) rs202070666 0.00066
NM_015419.4(MXRA5):c.1783G>A (p.Val595Met) rs144346765 0.00044
NM_005560.6(LAMA5):c.10322C>T (p.Thr3441Met) rs200093098 0.00030
NM_014856.3(DENND4B):c.2828G>C (p.Trp943Ser) rs201381125 0.00017
NM_005560.6(LAMA5):c.6301G>A (p.Glu2101Lys) rs370433088 0.00010
NM_017999.5(RNF31):c.2480G>A (p.Arg827His) rs377035972 0.00010
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_001466.4(FZD2):c.655C>T (p.Arg219Cys) rs375633511 0.00007
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser) rs121908345 0.00006
NM_017514.5(PLXNA3):c.1623G>C (p.Gln541His) rs782515431 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_004979.6(KCND1):c.1774C>T (p.Arg592Trp) rs1230432769 0.00003
NM_020765.3(UBR4):c.13828C>A (p.Pro4610Thr) rs761960636 0.00003
NM_002862.4(PYGB):c.2047A>G (p.Met683Val) rs201805961 0.00002
NM_004284.6(CHD1L):c.1929del (p.Arg643fs) rs782144677 0.00002
NM_005560.6(LAMA5):c.6101A>G (p.Asp2034Gly) rs773956500 0.00002
NM_025130.4(HKDC1):c.1088C>T (p.Pro363Leu) rs200034765 0.00002
NM_001142966.3(GREB1L):c.988C>T (p.Arg330Trp) rs377314861 0.00001
NM_001386125.1(OBSCN):c.8582C>T (p.Thr2861Met) rs747262678 0.00001
NM_003862.3(FGF18):c.211C>T (p.Arg71Cys) rs1441510334 0.00001
NM_004362.3(CLGN):c.731A>G (p.Asp244Gly) rs201306926 0.00001
NM_006734.4(HIVEP2):c.2156C>T (p.Thr719Ile) rs780128851 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_014055.4(IFT81):c.1150C>T (p.Arg384Cys) rs143130309 0.00001
NM_014423.4(AFF4):c.2995A>G (p.Thr999Ala) rs780871066 0.00001
NM_015166.4(MLC1):c.423+1G>A rs752428321 0.00001
NM_020765.3(UBR4):c.4045C>G (p.Arg1349Gly) rs776593168 0.00001
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
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.344G>A (p.Ser115Asn)
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.526C>T (p.Gln176Ter)
NM_000458.4(HNF1B):c.544+3_544+6del
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
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_001987.5(ETV6):c.614del (p.Leu205fs) rs1555144911
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del) rs1555471931
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_006009.4(TUBA1A):c.1177C>T (p.His393Tyr) rs1555162288
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006772.3(SYNGAP1):c.3238G>A (p.Ala1080Thr) rs1200128322
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_024757.5(EHMT1):c.91C>T (p.Pro31Ser) rs759512176

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